WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
2139219
ClinVar RCV Id:
RCV003070773
dbSNP Id:
rs1382335392
gnomAD v2:
9-134388671-G-A
gnomAD v4:
9-131513284-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131513284G>A , CM000671.2:g.131513284G>A | GRCh38 |
| NC_000009.11:g.134388671G>A , CM000671.1:g.134388671G>A | GRCh37 |
| NC_000009.10:g.133378492G>A | NCBI36 |
| NG_008896.1:g.15383G>A | |
| NG_008896.2:g.15383G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.966G>A | ENSP00000343034.7:p.Gly322= | |
| ENST00000404875.7:n.1668G>A | ||
| ENST00000423007.6:c.1185G>A | ENSP00000404119.2:p.Gly395= | |
| ENST00000677295.2:c.*1472G>A | ENSP00000504346.2:n.*1472G>A | |
| ENST00000678264.2:c.*1311G>A | ENSP00000503157.2:n.*1311G>A | |
| ENST00000682070.1:n.1593G>A | ||
| ENST00000682813.1:n.1393G>A | ||
| ENST00000683392.1:n.3875G>A | ||
| ENST00000683712.1:n.1533G>A | ||
| ENST00000683900.1:n.3028G>A | ||
| ENST00000684062.1:n.1794G>A | ||
| ENST00000684579.1:n.2974G>A | ||
| ENST00000341012.12:c.966G>A | ENSP00000343034.7:p.Gly322= | |
| ENST00000372220.5:c.-4G>A | ENSP00000361294.5:n.-4G>A | |
| ENST00000372228.9:c.1194G>A | ENSP00000361302.3:p.Gly398= | |
| ENST00000402686.8:c.1128G>A MANE Select | ENSP00000385797.4:p.Gly376= | |
| ENST00000676640.1:c.1128G>A | ENSP00000503281.1:p.Gly376= | |
| ENST00000676803.1:c.303G>A | ENSP00000503093.1:p.Gly101= | |
| ENST00000676835.1:c.*343G>A | ENSP00000502911.1:n.*343G>A | |
| ENST00000677029.1:c.672G>A | ENSP00000502936.1:p.Gly224= | |
| ENST00000677099.1:c.*838G>A | ENSP00000504553.1:n.*838G>A | |
| ENST00000677216.1:c.777G>A | ENSP00000503772.1:p.Gly259= | |
| ENST00000677293.1:c.303G>A | ENSP00000504278.1:p.Gly101= | |
| ENST00000677295.1:c.*505G>A | ENSP00000504346.1:n.*505G>A | |
| ENST00000677444.1:c.934G>A | ||
| ENST00000677586.1:n.609G>A | ||
| ENST00000677626.1:c.824+1817G>A | ENSP00000503552.1:n.824+1817G>A | |
| ENST00000677677.1:n.1088G>A | ||
| ENST00000677853.1:c.*136G>A | ENSP00000503488.1:n.*136G>A | |
| ENST00000677944.1:c.390G>A | ||
| ENST00000678264.1:c.*505G>A | ENSP00000503157.1:n.*505G>A | |
| ENST00000678303.1:c.1038G>A | ENSP00000503696.1:p.Gly346= | |
| ENST00000678366.1:c.*1377G>A | ENSP00000504353.1:n.*1377G>A | |
| ENST00000678546.1:c.*1073G>A | ENSP00000503062.1:n.*1073G>A | |
| ENST00000678548.1:c.*1200G>A | ENSP00000503934.1:n.*1200G>A | |
| ENST00000678626.1:n.825G>A | ||
| ENST00000678733.1:c.256+1148G>A | ||
| ENST00000678739.1:c.*1454G>A | ENSP00000503806.1:n.*1454G>A | |
| ENST00000678795.1:n.215G>A | ||
| ENST00000678833.1:c.*575G>A | ENSP00000503893.1:n.*575G>A | |
| ENST00000678942.1:c.308G>A | ENSP00000504690.1:n.308G>A | |
| ENST00000679023.1:c.966G>A | ENSP00000503718.1:p.Gly322= | |
| ENST00000679073.1:c.506G>A | ENSP00000504356.1:n.506G>A | |
| ENST00000679076.1:c.747G>A | ||
| ENST00000679111.1:c.1128G>A | ENSP00000504257.1:p.Gly376= | |
| ENST00000679189.1:c.777G>A | ENSP00000503356.1:p.Gly259= | |
| ENST00000341012.11:c.966G>A | ENSP00000343034.7:p.Gly322= | |
| ENST00000372228.7:c.1194G>A | ENSP00000361302.3:p.Gly398= | |
| ENST00000402686.7:c.1128G>A | ENSP00000385797.3:p.Gly376= | |
| ENST00000404875.6:c.777G>A | ENSP00000384531.2:p.Gly259= | |
| ENST00000423007.5:c.1128G>A | ENSP00000404119.1:p.Gly376= | |
| ENST00000441334.5:c.843G>A | ENSP00000395060.1:p.Gly281= | |
| ENST00000462375.5:n.954G>A | ||
| ENST00000485278.5:n.1683G>A | ||
| NM_001077365.1:c.1128G>A | NP_001070833.1:p.Gly376= | |
| NM_001077366.1:c.966G>A | NP_001070834.1:p.Gly322= | |
| NM_001136113.1:c.1128G>A | NP_001129585.1:p.Gly376= | |
| NM_001136114.1:c.777G>A | NP_001129586.1:p.Gly259= | |
| NM_007171.3:c.1194G>A | NP_009102.3:p.Gly398= | |
| XM_005272156.1:c.1194G>A | XP_005272213.1:p.Gly398= | |
| XM_005272158.1:c.1032G>A | XP_005272215.1:p.Gly344= | |
| XM_005272159.1:c.843G>A | XP_005272216.1:p.Gly281= | |
| XM_005272162.1:c.-4G>A | XP_005272219.1:n.-4G>A | |
| XM_006716932.1:c.843G>A | XP_006716995.1:p.Gly281= | |
| XM_011518140.1:c.1047G>A | XP_011516442.1:p.Gly349= | |
| XM_011518141.1:c.981G>A | XP_011516443.1:p.Gly327= | |
| XM_011518142.1:c.885G>A | XP_011516444.1:p.Gly295= | |
| XM_011518143.1:c.879G>A | XP_011516445.1:p.Gly293= | |
| XM_011518144.1:c.1194G>A | XP_011516446.1:p.Gly398= | |
| XM_011518145.1:c.738G>A | XP_011516447.1:p.Gly246= | |
| XM_011518146.1:c.879G>A | XP_011516448.1:p.Gly293= | |
| XR_929703.1:n.1370G>A | ||
| NM_001353193.1:c.1194G>A | NP_001340122.1:p.Gly398= | |
| NM_001353194.1:c.966G>A | NP_001340123.1:p.Gly322= | |
| NM_001353195.1:c.777G>A | NP_001340124.1:p.Gly259= | |
| NM_001353196.1:c.1038G>A | NP_001340125.1:p.Gly346= | |
| NM_001353197.1:c.1032G>A | NP_001340126.1:p.Gly344= | |
| NM_001353198.1:c.1032G>A | NP_001340127.1:p.Gly344= | |
| NM_001353199.1:c.843G>A | NP_001340128.1:p.Gly281= | |
| NM_001353200.1:c.672G>A | NP_001340129.1:p.Gly224= | |
| NR_148391.1:n.1178G>A | ||
| NR_148392.1:n.1396G>A | ||
| NR_148393.1:n.1178G>A | ||
| NR_148394.1:n.1071G>A | ||
| NR_148395.1:n.1330G>A | ||
| NR_148396.1:n.964G>A | ||
| NR_148397.1:n.1228G>A | ||
| NR_148398.1:n.1183G>A | ||
| NR_148399.1:n.1570G>A | ||
| NR_148400.1:n.1169G>A | ||
| XM_005272162.3:c.-4G>A | XP_005272219.1:n.-4G>A | |
| XM_006716932.2:c.843G>A | XP_006716995.1:p.Gly281= | |
| XM_011518140.2:c.1047G>A | XP_011516442.1:p.Gly349= | |
| XM_011518141.2:c.981G>A | XP_011516443.1:p.Gly327= | |
| XM_011518142.2:c.885G>A | XP_011516444.1:p.Gly295= | |
| XM_011518143.2:c.879G>A | XP_011516445.1:p.Gly293= | |
| XM_011518145.2:c.738G>A | XP_011516447.1:p.Gly246= | |
| XM_017014205.2:c.-4G>A | XP_016869694.1:n.-4G>A | |
| XM_024447380.1:c.-4G>A | XP_024303148.1:n.-4G>A | |
| XM_024447381.1:c.303G>A | XP_024303149.1:p.Gly101= | |
| XM_024447382.1:c.-4G>A | XP_024303150.1:n.-4G>A | |
| XR_001746160.2:n.1298G>A | ||
| XR_001746162.2:n.1364G>A | ||
| XR_001746164.1:n.1081G>A | ||
| XR_001746166.2:n.1515G>A | ||
| NM_001077365.2:c.1128G>A MANE Select | NP_001070833.1:p.Gly376= | |
| NM_001077366.2:c.966G>A | NP_001070834.1:p.Gly322= | |
| NM_001136113.2:c.1128G>A | NP_001129585.1:p.Gly376= | |
| NM_001136114.2:c.777G>A | NP_001129586.1:p.Gly259= | |
| NM_001353193.2:c.1194G>A | NP_001340122.2:p.Gly398= | |
| NM_001353194.2:c.966G>A | NP_001340123.1:p.Gly322= | |
| NM_001353195.2:c.777G>A | NP_001340124.1:p.Gly259= | |
| NM_001353196.2:c.1038G>A | NP_001340125.1:p.Gly346= | |
| NM_001353197.2:c.1032G>A | NP_001340126.2:p.Gly344= | |
| NM_001353198.2:c.1032G>A | NP_001340127.2:p.Gly344= | |
| NM_001353199.2:c.843G>A | NP_001340128.2:p.Gly281= | |
| NM_001353200.2:c.672G>A | NP_001340129.1:p.Gly224= | |
| NM_001374689.1:c.1116G>A | NP_001361618.1:p.Gly372= | |
| NM_001374690.1:c.1128G>A | NP_001361619.1:p.Gly376= | |
| NM_001374691.1:c.777G>A | NP_001361620.1:p.Gly259= | |
| NM_001374692.1:c.777G>A | NP_001361621.1:p.Gly259= | |
| NM_001374693.1:c.824+1817G>A | NP_001361622.1:n.824+1817G>A | |
| NM_001374695.1:c.738G>A | NP_001361624.1:p.Gly246= | |
| NM_007171.4:c.1194G>A | NP_009102.4:p.Gly398= | |
| NR_148391.2:n.1162G>A | ||
| NR_148392.2:n.1380G>A | ||
| NR_148393.2:n.1162G>A | ||
| NR_148394.2:n.1055G>A | ||
| NR_148395.2:n.1314G>A | ||
| NR_148396.2:n.948G>A | ||
| NR_148397.2:n.1212G>A | ||
| NR_148398.2:n.1167G>A | ||
| NR_148399.2:n.1554G>A | ||
| NR_148400.2:n.1153G>A |