Linked Data
ClinVar Variation Id:
7099
ClinVar RCV Id:
RCV000007517
RCV000007516
RCV000177328
RCV000269750
RCV000324769
RCV001705584
RCV001512340
RCV002490331
dbSNP Id:
rs11258194
ExAC:
10:13152400 T / A
gnomAD v2:
10-13152400-T-A
gnomAD v3:
10-13110400-T-A
gnomAD v4:
10-13110400-T-A
COSMIC:
COSM3997844
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13110400T>A , CM000672.2:g.13110400T>A | GRCh38 |
| NC_000010.10:g.13152400T>A , CM000672.1:g.13152400T>A | GRCh37 |
| NC_000010.9:g.13192406T>A | NCBI36 |
| NG_012876.1:g.15319T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378747.8:c.293T>A MANE Select | ENSP00000368021.3:p.Met98Lys | |
| ENST00000263036.9:c.293T>A | ENSP00000263036.3:p.Met98Lys | |
| ENST00000378747.7:c.293T>A | ENSP00000368021.3:p.Met98Lys | |
| ENST00000378748.7:c.293T>A | ENSP00000368022.3:p.Met98Lys | |
| ENST00000378752.7:c.293T>A | ENSP00000368027.3:p.Met98Lys | |
| ENST00000378757.6:c.293T>A | ENSP00000368032.2:p.Met98Lys | |
| ENST00000378764.6:c.293T>A | ENSP00000368040.1:p.Met98Lys | |
| ENST00000430081.5:c.*198T>A | ENSP00000414747.2:n.*198T>A | |
| ENST00000482140.5:c.166+1112T>A | ENSP00000484961.1:n.166+1112T>A | |
| NM_001008211.1:c.293T>A | NP_001008212.1:p.Met98Lys | |
| NM_001008212.1:c.293T>A | NP_001008213.1:p.Met98Lys | |
| NM_001008213.1:c.293T>A | NP_001008214.1:p.Met98Lys | |
| NM_021980.4:c.293T>A | NP_068815.2:p.Met98Lys | |
| XM_005252336.2:c.293T>A | XP_005252393.2:p.Met98Lys | |
| XM_005252337.3:c.293T>A | XP_005252394.2:p.Met98Lys | |
| XM_005252338.2:c.122T>A | XP_005252395.2:p.Met41Lys | |
| NM_001008212.2:c.293T>A MANE Select | NP_001008213.1:p.Met98Lys |