Linked Data
ClinVar Variation Id:
1116505
ClinVar RCV Id:
RCV001444918
dbSNP Id:
rs763978489
ExAC:
6:129826458 T / C
gnomAD v2:
6-129826458-T-C
gnomAD v4:
6-129505313-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129505313T>C , CM000668.2:g.129505313T>C | GRCh38 |
| NC_000006.11:g.129826458T>C , CM000668.1:g.129826458T>C | GRCh37 |
| NC_000006.10:g.129868151T>C | NCBI36 |
| NG_008678.1:g.627173T>C , LRG_409:g.627173T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494137.2:c.726T>C | ENSP00000510626.1:p.Val242= | |
| ENST00000498257.6:c.726T>C | ENSP00000510533.1:p.Val242= | |
| ENST00000617695.5:c.8649T>C | ENSP00000481744.2:p.Val2883= | |
| ENST00000618192.5:c.8925T>C | ENSP00000480802.2:p.Val2975= | |
| ENST00000688198.1:n.1639T>C | ||
| ENST00000688799.1:c.726T>C | ENSP00000508458.1:p.Val242= | |
| ENST00000690858.1:n.1655T>C | ||
| ENST00000693461.1:n.998T>C | ||
| ENST00000421865.3:c.8661T>C MANE Select | ENSP00000400365.2:p.Val2887= | |
| ENST00000421865.2:c.8661T>C | ENSP00000400365.2:p.Val2887= | |
| ENST00000617695.4:c.8649T>C | ENSP00000481744.1:p.Val2883= | |
| ENST00000618192.4:c.8658T>C | ENSP00000480802.1:p.Val2886= | |
| NM_000426.3:c.8661T>C , LRG_409t1:c.8661T>C | NP_000417.2:p.Val2887= | |
| NM_001079823.1:c.8649T>C | NP_001073291.1:p.Val2883= | |
| XM_005266981.2:c.8925T>C | XP_005267038.1:p.Val2975= | |
| XM_005266982.2:c.8913T>C | XP_005267039.1:p.Val2971= | |
| XM_011535820.1:c.8919T>C | XP_011534122.1:p.Val2973= | |
| XR_942984.1:n.1461-2522A>G | ||
| XR_942985.1:n.1325-2522A>G | ||
| XM_005266981.3:c.8925T>C | XP_005267038.1:p.Val2975= | |
| XM_005266982.3:c.8913T>C | XP_005267039.1:p.Val2971= | |
| XM_011535820.2:c.8919T>C | XP_011534122.1:p.Val2973= | |
| XM_017010851.2:c.8931T>C | XP_016866340.1:p.Val2977= | |
| XM_017010852.1:c.7056T>C | XP_016866341.1:p.Val2352= | |
| XR_001743859.1:n.3901-2522A>G | ||
| XR_001743860.1:n.1180-2522A>G | ||
| XR_001743861.1:n.1347-2522A>G | ||
| XR_001743863.1:n.883-2522A>G | ||
| XR_002956395.1:n.9132-2522A>G | ||
| XR_002956396.1:n.3127-2522A>G | ||
| NM_000426.4:c.8661T>C MANE Select | NP_000417.3:p.Val2887= | |
| NM_001079823.2:c.8649T>C | NP_001073291.2:p.Val2883= |