Linked Data
ClinVar Variation Id:
310984
dbSNP Id:
rs147181971
ExAC:
13:108862365 A / G
gnomAD v2:
13-108862365-A-G
gnomAD v3:
13-108210017-A-G
gnomAD v4:
13-108210017-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108210017A>G , CM000675.2:g.108210017A>G | GRCh38 |
| NC_000013.10:g.108862365A>G , CM000675.1:g.108862365A>G | GRCh37 |
| NC_000013.9:g.107660366A>G | NCBI36 |
| NG_007396.1:g.10518T>C , LRG_79:g.10518T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614526.2:c.1051T>C | ENSP00000480814.1:p.Leu351= | |
| ENST00000685338.1:c.1252T>C | ENSP00000510567.1:p.Leu418= | |
| ENST00000686095.1:c.1252T>C | ENSP00000509942.1:p.Leu418= | |
| ENST00000686204.1:c.1252T>C | ENSP00000509685.1:p.Leu418= | |
| ENST00000686913.1:c.1252T>C | ENSP00000509299.1:p.Leu418= | |
| ENST00000686926.1:c.1252T>C | ENSP00000509122.1:p.Leu418= | |
| ENST00000687164.1:c.1252T>C | ENSP00000508512.1:p.Leu418= | |
| ENST00000687822.1:c.1252T>C | ENSP00000509344.1:p.Leu418= | |
| ENST00000688396.1:c.1252T>C | ENSP00000509564.1:p.Leu418= | |
| ENST00000688455.1:c.1252T>C | ENSP00000509304.1:p.Leu418= | |
| ENST00000688529.1:c.1252T>C | ENSP00000509906.1:p.Leu418= | |
| ENST00000688595.1:c.1252T>C | ENSP00000509502.1:p.Leu418= | |
| ENST00000689762.1:c.1051T>C | ENSP00000508867.1:p.Leu351= | |
| ENST00000690127.1:c.1051T>C | ENSP00000509468.1:p.Leu351= | |
| ENST00000692222.1:c.1252T>C | ENSP00000509226.1:p.Leu418= | |
| ENST00000693040.1:c.1252T>C | ENSP00000510014.1:p.Leu418= | |
| ENST00000442234.6:c.1252T>C MANE Select | ENSP00000402030.1:p.Leu418= | |
| ENST00000356922.5:c.1252T>C | ENSP00000349393.3:p.Leu418= | |
| ENST00000405925.2:c.1252T>C | ENSP00000385955.1:p.Leu418= | |
| ENST00000442234.5:c.1252T>C | ENSP00000402030.1:p.Leu418= | |
| ENST00000611712.4:c.1252T>C | ENSP00000484288.1:p.Leu418= | |
| ENST00000614526.1:c.1051T>C | ENSP00000480814.1:p.Leu351= | |
| NM_001098268.1:c.1252T>C | NP_001091738.1:p.Leu418= | |
| NM_002312.3:c.1252T>C , LRG_79t1:c.1252T>C | NP_002303.2:p.Leu418= | |
| NM_206937.1:c.1252T>C | NP_996820.1:p.Leu418= | |
| XM_005254056.1:c.1252T>C | XP_005254113.1:p.Leu418= | |
| XM_005254057.3:c.1252T>C | XP_005254114.1:p.Leu418= | |
| XM_005254058.2:c.1252T>C | XP_005254115.1:p.Leu418= | |
| XM_006719951.2:c.1252T>C | XP_006720014.1:p.Leu418= | |
| XM_006719952.1:c.1252T>C | XP_006720015.1:p.Leu418= | |
| XM_011521091.1:c.1252T>C | XP_011519393.1:p.Leu418= | |
| XM_011521092.1:c.1252T>C | XP_011519394.1:p.Leu418= | |
| NM_001330595.1:c.1051T>C | NP_001317524.1:p.Leu351= | |
| NM_001352598.1:c.1252T>C | NP_001339527.1:p.Leu418= | |
| NM_001352599.1:c.1252T>C | NP_001339528.1:p.Leu418= | |
| NM_001352600.1:c.1252T>C | NP_001339529.1:p.Leu418= | |
| NM_001352601.1:c.1252T>C | NP_001339530.1:p.Leu418= | |
| NM_001352602.1:c.1252T>C | NP_001339531.1:p.Leu418= | |
| NM_001352603.1:c.1252T>C | NP_001339532.1:p.Leu418= | |
| NM_001352604.1:c.1288T>C | NP_001339533.1:p.Leu430= | |
| XM_005254058.4:c.1252T>C | XP_005254115.1:p.Leu418= | |
| XM_006719951.3:c.1252T>C | XP_006720014.1:p.Leu418= | |
| XM_017020564.1:c.1288T>C | XP_016876053.1:p.Leu430= | |
| XM_017020565.1:c.1288T>C | XP_016876054.1:p.Leu430= | |
| XM_017020566.1:c.1288T>C | XP_016876055.1:p.Leu430= | |
| XM_017020568.2:c.1264T>C | XP_016876057.1:p.Leu422= | |
| XM_017020571.1:c.1252T>C | XP_016876060.1:p.Leu418= | |
| XM_017020573.1:c.1051T>C | XP_016876062.1:p.Leu351= | |
| NM_001098268.2:c.1252T>C | NP_001091738.1:p.Leu418= | |
| NM_001352598.2:c.1252T>C | NP_001339527.1:p.Leu418= | |
| NM_001352599.2:c.1252T>C | NP_001339528.1:p.Leu418= | |
| NM_001352600.2:c.1252T>C | NP_001339529.1:p.Leu418= | |
| NM_001352601.2:c.1252T>C | NP_001339530.1:p.Leu418= | |
| NM_001352602.2:c.1252T>C | NP_001339531.1:p.Leu418= | |
| NM_206937.2:c.1252T>C MANE Select | NP_996820.1:p.Leu418= | |
| NM_001330595.2:c.1051T>C | NP_001317524.1:p.Leu351= | |
| NM_001352604.2:c.1288T>C | NP_001339533.1:p.Leu430= | |
| NM_001379095.1:c.1252T>C | NP_001366024.1:p.Leu418= |