Linked Data
ClinVar Variation Id:
41624
ClinVar RCV Id:
RCV000034529
RCV000121340
RCV000123120
RCV000163261
RCV000203290
RCV000431770
RCV000421063
RCV001507182
RCV002227927
RCV003891465
dbSNP Id:
rs56391007
ExAC:
7:116411990 C / T
gnomAD v2:
7-116411990-C-T
gnomAD v3:
7-116771936-C-T
gnomAD v4:
7-116771936-C-T
COSMIC:
COSM707
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116771936C>T , CM000669.2:g.116771936C>T | GRCh38 |
| NC_000007.13:g.116411990C>T , CM000669.1:g.116411990C>T | GRCh37 |
| NC_000007.12:g.116199226C>T | NCBI36 |
| NG_008996.1:g.104532C>T , LRG_662:g.104532C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*580C>T | ENSP00000410980.2:n.*580C>T | |
| ENST00000318493.11:c.3029C>T | ENSP00000317272.6:p.Thr1010Ile | |
| ENST00000397752.8:c.2975C>T MANE Select | ENSP00000380860.3:p.Thr992Ile | |
| ENST00000318493.10:c.3029C>T | ENSP00000317272.6:p.Thr1010Ile | |
| ENST00000397752.7:c.2975C>T | ENSP00000380860.3:p.Thr992Ile | |
| ENST00000454623.1:c.283+282C>T | ENSP00000398140.1:n.283+282C>T | |
| NM_000245.2:c.2975C>T | NP_000236.2:p.Thr992Ile | |
| NM_001127500.1:c.3029C>T , LRG_662t1:c.3029C>T | NP_001120972.1:p.Thr1010Ile | |
| XM_006715990.2:c.1685C>T | XP_006716053.1:p.Thr562Ile | |
| XM_006715991.2:c.1685C>T | XP_006716054.1:p.Thr562Ile | |
| XM_011516223.1:c.3032C>T | XP_011514525.1:p.Thr1011Ile | |
| NM_000245.3:c.2975C>T | NP_000236.2:p.Thr992Ile | |
| NM_001127500.2:c.3029C>T | NP_001120972.1:p.Thr1010Ile | |
| NM_001324402.1:c.1685C>T | NP_001311331.1:p.Thr562Ile | |
| XR_001744772.1:n.3106C>T | ||
| NM_001127500.3:c.3029C>T | NP_001120972.1:p.Thr1010Ile | |
| NM_000245.4:c.2975C>T MANE Select | NP_000236.2:p.Thr992Ile | |
| NM_001324402.2:c.1685C>T | NP_001311331.1:p.Thr562Ile |