Linked Data
ClinVar Variation Id:
8951
ClinVar RCV Id:
RCV000009507
dbSNP Id:
rs121918531
ExAC:
15:100230617 G / A
gnomAD v2:
15-100230617-G-A
gnomAD v3:
15-99690412-G-A
gnomAD v4:
15-99690412-G-A
PubMed:
PMID:15496429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.99690412G>A , CM000677.2:g.99690412G>A | GRCh38 |
| NC_000015.9:g.100230617G>A , CM000677.1:g.100230617G>A | GRCh37 |
| NC_000015.8:g.98048140G>A | NCBI36 |
| NG_016443.1:g.129485G>A | |
| NG_016443.2:g.129485G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000705985.1:c.860G>A | ENSP00000516195.1:p.Gly287Asp | |
| ENST00000338042.11:c.860G>A | ENSP00000337202.8:p.Gly287Asp | |
| ENST00000557942.6:c.842G>A MANE Select | ENSP00000453095.1:p.Gly281Asp | |
| ENST00000685785.1:c.860G>A | ENSP00000508747.1:p.Gly287Asp | |
| ENST00000686611.1:c.848G>A | ENSP00000509137.1:p.Gly283Asp | |
| ENST00000690055.1:c.860G>A | ENSP00000509700.1:p.Gly287Asp | |
| ENST00000691492.1:c.842G>A | ENSP00000509537.1:p.Gly281Asp | |
| ENST00000338042.10:c.842G>A | ENSP00000337202.7:p.Gly281Asp | |
| ENST00000354410.9:c.848G>A | ENSP00000346389.5:p.Gly283Asp | |
| ENST00000449277.6:c.638G>A | ENSP00000399460.2:p.Gly213Asp | |
| ENST00000557785.5:c.842G>A | ENSP00000453441.1:p.Gly281Asp | |
| ENST00000557942.5:c.842G>A | ENSP00000453095.1:p.Gly281Asp | |
| ENST00000558812.5:c.638G>A | ENSP00000454120.1:p.Gly213Asp | |
| NM_001130926.1:c.842G>A | NP_001124398.1:p.Gly281Asp | |
| NM_001130927.1:c.638G>A | NP_001124399.1:p.Gly213Asp | |
| NM_001130928.1:c.638G>A | NP_001124400.1:p.Gly213Asp | |
| NM_001171894.1:c.842G>A | NP_001165365.1:p.Gly281Asp | |
| NM_005587.2:c.848G>A | NP_005578.2:p.Gly283Asp | |
| XM_005254914.1:c.860G>A | XP_005254971.1:p.Gly287Asp | |
| XM_005254915.1:c.842G>A | XP_005254972.1:p.Gly281Asp | |
| XM_011521571.1:c.860G>A | XP_011519873.1:p.Gly287Asp | |
| XM_011521572.1:c.860G>A | XP_011519874.1:p.Gly287Asp | |
| XM_011521573.1:c.860G>A | XP_011519875.1:p.Gly287Asp | |
| XM_011521574.1:c.860G>A | XP_011519876.1:p.Gly287Asp | |
| XM_011521575.1:c.860G>A | XP_011519877.1:p.Gly287Asp | |
| XM_011521576.1:c.860G>A | XP_011519878.1:p.Gly287Asp | |
| XM_011521577.1:c.860G>A | XP_011519879.1:p.Gly287Asp | |
| XM_011521578.1:c.860G>A | XP_011519880.1:p.Gly287Asp | |
| XM_011521579.1:c.860G>A | XP_011519881.1:p.Gly287Asp | |
| XM_011521580.1:c.860G>A | XP_011519882.1:p.Gly287Asp | |
| XM_011521581.1:c.848G>A | XP_011519883.1:p.Gly283Asp | |
| XM_011521582.1:c.848G>A | XP_011519884.1:p.Gly283Asp | |
| XM_011521583.1:c.842G>A | XP_011519885.1:p.Gly281Asp | |
| XM_011521584.1:c.842G>A | XP_011519886.1:p.Gly281Asp | |
| XM_011521585.1:c.656G>A | XP_011519887.1:p.Gly219Asp | |
| XM_011521586.1:c.638G>A | XP_011519888.1:p.Gly213Asp | |
| XM_011521587.1:c.638G>A | XP_011519889.1:p.Gly213Asp | |
| XM_011521588.1:c.488G>A | XP_011519890.1:p.Gly163Asp | |
| XM_011521589.1:c.425G>A | XP_011519891.1:p.Gly142Asp | |
| XM_011521590.1:c.860G>A | XP_011519892.1:p.Gly287Asp | |
| XR_931837.1:n.1226G>A | ||
| NM_001130926.2:c.842G>A | NP_001124398.1:p.Gly281Asp | |
| NM_001130927.2:c.638G>A | NP_001124399.1:p.Gly213Asp | |
| NM_001130928.2:c.638G>A | NP_001124400.1:p.Gly213Asp | |
| NM_001171894.2:c.842G>A | NP_001165365.1:p.Gly281Asp | |
| NM_001319206.1:c.842G>A | NP_001306135.1:p.Gly281Asp | |
| NM_001352614.1:c.842G>A | NP_001339543.1:p.Gly281Asp | |
| NM_001352615.1:c.842G>A | NP_001339544.1:p.Gly281Asp | |
| NM_001352616.1:c.842G>A | NP_001339545.1:p.Gly281Asp | |
| NM_001352617.1:c.848G>A | NP_001339546.1:p.Gly283Asp | |
| NM_001352618.1:c.860G>A | NP_001339547.1:p.Gly287Asp | |
| NM_001365201.1:c.860G>A | NP_001352130.1:p.Gly287Asp | |
| NM_001365202.1:c.860G>A | NP_001352131.1:p.Gly287Asp | |
| NM_001365203.1:c.848G>A | NP_001352132.1:p.Gly283Asp | |
| NM_001365204.1:c.848G>A | NP_001352133.1:p.Gly283Asp | |
| NM_001365205.1:c.842G>A | NP_001352134.1:p.Gly281Asp | |
| NM_001365206.1:c.860G>A | NP_001352135.1:p.Gly287Asp | |
| NM_001365207.1:c.848G>A | NP_001352136.1:p.Gly283Asp | |
| NM_001365208.1:c.842G>A | NP_001352137.1:p.Gly281Asp | |
| NM_001365209.1:c.638G>A | NP_001352138.1:p.Gly213Asp | |
| NM_005587.3:c.848G>A | NP_005578.2:p.Gly283Asp | |
| XM_005254915.2:c.842G>A | XP_005254972.1:p.Gly281Asp | |
| XM_011521571.3:c.860G>A | XP_011519873.1:p.Gly287Asp | |
| XM_011521572.2:c.860G>A | XP_011519874.1:p.Gly287Asp | |
| XM_011521573.2:c.860G>A | XP_011519875.1:p.Gly287Asp | |
| XM_011521576.2:c.860G>A | XP_011519878.1:p.Gly287Asp | |
| XM_011521577.2:c.860G>A | XP_011519879.1:p.Gly287Asp | |
| XM_011521578.2:c.860G>A | XP_011519880.1:p.Gly287Asp | |
| XM_011521579.2:c.860G>A | XP_011519881.1:p.Gly287Asp | |
| XM_011521581.3:c.848G>A | XP_011519883.1:p.Gly283Asp | |
| XM_011521582.2:c.848G>A | XP_011519884.1:p.Gly283Asp | |
| XM_011521583.2:c.842G>A | XP_011519885.1:p.Gly281Asp | |
| XM_011521585.2:c.656G>A | XP_011519887.1:p.Gly219Asp | |
| XM_011521586.2:c.638G>A | XP_011519888.1:p.Gly213Asp | |
| XM_011521587.2:c.638G>A | XP_011519889.1:p.Gly213Asp | |
| XM_011521590.2:c.860G>A | XP_011519892.1:p.Gly287Asp | |
| XM_017022190.1:c.848G>A | XP_016877679.1:p.Gly283Asp | |
| XM_017022191.1:c.848G>A | XP_016877680.1:p.Gly283Asp | |
| XM_017022192.1:c.860G>A | XP_016877681.1:p.Gly287Asp | |
| XM_017022194.1:c.848G>A | XP_016877683.1:p.Gly283Asp | |
| XM_017022195.1:c.644G>A | XP_016877684.1:p.Gly215Asp | |
| XM_017022196.1:c.488G>A | XP_016877685.1:p.Gly163Asp | |
| XM_017022197.2:c.476G>A | XP_016877686.1:p.Gly159Asp | |
| XM_017022198.2:c.476G>A | XP_016877687.1:p.Gly159Asp | |
| XM_017022199.1:c.488G>A | XP_016877688.1:p.Gly163Asp | |
| XM_017022200.1:c.476G>A | XP_016877689.1:p.Gly159Asp | |
| XM_017022201.1:c.476G>A | XP_016877690.1:p.Gly159Asp | |
| XM_017022202.1:c.425G>A | XP_016877691.1:p.Gly142Asp | |
| XR_001751289.1:n.1226G>A | ||
| NM_001130927.3:c.638G>A | NP_001124399.1:p.Gly213Asp | |
| NM_001171894.3:c.842G>A | NP_001165365.1:p.Gly281Asp | |
| NM_001319206.2:c.842G>A | NP_001306135.1:p.Gly281Asp | |
| NM_001352614.2:c.842G>A | NP_001339543.1:p.Gly281Asp | |
| NM_001352615.2:c.842G>A | NP_001339544.1:p.Gly281Asp | |
| NM_001352616.2:c.842G>A | NP_001339545.1:p.Gly281Asp | |
| NM_001352617.2:c.848G>A | NP_001339546.1:p.Gly283Asp | |
| NM_001352618.2:c.860G>A | NP_001339547.1:p.Gly287Asp | |
| NM_005587.4:c.848G>A | NP_005578.2:p.Gly283Asp | |
| NM_001130926.5:c.842G>A | NP_001124398.1:p.Gly281Asp | |
| NM_001130927.5:c.638G>A | NP_001124399.1:p.Gly213Asp | |
| NM_001130928.4:c.638G>A | NP_001124400.1:p.Gly213Asp | |
| NM_001171894.5:c.842G>A | NP_001165365.1:p.Gly281Asp | |
| NM_001319206.4:c.842G>A MANE Select | NP_001306135.1:p.Gly281Asp | |
| NM_001352614.4:c.842G>A | NP_001339543.1:p.Gly281Asp | |
| NM_001352615.4:c.842G>A | NP_001339544.1:p.Gly281Asp | |
| NM_001352616.4:c.842G>A | NP_001339545.1:p.Gly281Asp | |
| NM_001352617.4:c.848G>A | NP_001339546.1:p.Gly283Asp | |
| NM_001352618.4:c.860G>A | NP_001339547.1:p.Gly287Asp | |
| NM_001365201.3:c.860G>A | NP_001352130.1:p.Gly287Asp | |
| NM_001365202.3:c.860G>A | NP_001352131.1:p.Gly287Asp | |
| NM_001365203.3:c.848G>A | NP_001352132.1:p.Gly283Asp | |
| NM_001365204.3:c.848G>A | NP_001352133.1:p.Gly283Asp | |
| NM_001365205.3:c.842G>A | NP_001352134.1:p.Gly281Asp | |
| NM_001365206.3:c.860G>A | NP_001352135.1:p.Gly287Asp | |
| NM_001365207.3:c.848G>A | NP_001352136.1:p.Gly283Asp | |
| NM_001365208.3:c.842G>A | NP_001352137.1:p.Gly281Asp | |
| NM_001365209.3:c.638G>A | NP_001352138.1:p.Gly213Asp | |
| NM_001393558.2:c.644G>A | NP_001380487.1:p.Gly215Asp | |
| NM_001393559.2:c.638G>A | NP_001380488.1:p.Gly213Asp | |
| NM_001393560.2:c.670+14954G>A | NP_001380489.1:n.670+14954G>A | |
| NM_001393561.3:c.55-16317G>A | NP_001380490.1:n.55-16317G>A | |
| NM_005587.6:c.848G>A | NP_005578.2:p.Gly283Asp | |
| NM_001400028.1:c.980G>A | NP_001386957.1:p.Gly327Asp | |
| NM_001400029.1:c.848G>A | NP_001386958.1:p.Gly283Asp | |
| NM_001400030.1:c.848G>A | NP_001386959.1:p.Gly283Asp | |
| NM_001400031.1:c.842G>A | NP_001386960.1:p.Gly281Asp | |
| NM_001400032.1:c.842G>A | NP_001386961.1:p.Gly281Asp | |
| NM_001400033.1:c.842G>A | NP_001386962.1:p.Gly281Asp | |
| NM_001400034.1:c.842G>A | NP_001386963.1:p.Gly281Asp | |
| NM_001400035.1:c.842G>A | NP_001386964.1:p.Gly281Asp | |
| NM_001400036.1:c.842G>A | NP_001386965.1:p.Gly281Asp | |
| NM_001400037.1:c.860G>A | NP_001386966.1:p.Gly287Asp | |
| NM_001400038.1:c.848G>A | NP_001386967.1:p.Gly283Asp | |
| NM_001400039.1:c.848G>A | NP_001386968.1:p.Gly283Asp | |
| NM_001400040.1:c.848G>A | NP_001386969.1:p.Gly283Asp | |
| NM_001400049.1:c.848G>A | NP_001386978.1:p.Gly283Asp | |
| NM_001400050.1:c.848G>A | NP_001386979.1:p.Gly283Asp | |
| NM_001400051.1:c.848G>A | NP_001386980.1:p.Gly283Asp | |
| NM_001400052.1:c.848G>A | NP_001386981.1:p.Gly283Asp | |
| NM_001400053.1:c.848G>A | NP_001386982.1:p.Gly283Asp | |
| NM_001400054.1:c.842G>A | NP_001386983.1:p.Gly281Asp | |
| NM_001400055.1:c.842G>A | NP_001386984.1:p.Gly281Asp | |
| NM_001400056.1:c.842G>A | NP_001386985.1:p.Gly281Asp | |
| NM_001400057.1:c.842G>A | NP_001386986.1:p.Gly281Asp | |
| NM_001400058.1:c.842G>A | NP_001386987.1:p.Gly281Asp | |
| NM_001400059.1:c.842G>A | NP_001386988.1:p.Gly281Asp | |
| NM_001400060.1:c.842G>A | NP_001386989.1:p.Gly281Asp | |
| NM_001400061.1:c.842G>A | NP_001386990.1:p.Gly281Asp | |
| NM_001400062.1:c.842G>A | NP_001386991.1:p.Gly281Asp | |
| NM_001400063.1:c.842G>A | NP_001386992.1:p.Gly281Asp | |
| NM_001400064.1:c.842G>A | NP_001386993.1:p.Gly281Asp | |
| NM_001400065.1:c.842G>A | NP_001386994.1:p.Gly281Asp | |
| NM_001400066.1:c.842G>A | NP_001386995.1:p.Gly281Asp | |
| NM_001400067.1:c.644G>A | NP_001386996.1:p.Gly215Asp | |
| NM_001400068.1:c.644G>A | NP_001386997.1:p.Gly215Asp | |
| NM_001400069.1:c.506G>A | NP_001386998.1:p.Gly169Asp |