Linked Data
ClinVar Variation Id:
299250
dbSNP Id:
rs201979258
ExAC:
10:13330432 G / T
gnomAD v2:
10-13330432-G-T
gnomAD v3:
10-13288432-G-T
gnomAD v4:
10-13288432-G-T
COSMIC:
COSM2023069
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13288432G>T , CM000672.2:g.13288432G>T | GRCh38 |
| NC_000010.10:g.13330432G>T , CM000672.1:g.13330432G>T | GRCh37 |
| NC_000010.9:g.13370438G>T | NCBI36 |
| NG_012862.1:g.16699C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.606C>A MANE Select | ENSP00000263038.4:p.Asn202Lys | |
| ENST00000263038.8:c.606C>A | ENSP00000263038.4:p.Asn202Lys | |
| ENST00000396913.6:c.306C>A | ENSP00000380121.2:p.Asn102Lys | |
| ENST00000396920.7:c.555C>A | ENSP00000380126.3:p.Asn185Lys | |
| ENST00000453759.6:c.306C>A | ENSP00000412525.2:p.Asn102Lys | |
| ENST00000479604.1:c.612C>A | ENSP00000420117.1:p.Asn204Lys | |
| NM_001037537.1:c.306C>A | NP_001032626.1:p.Asn102Lys | |
| NM_006214.3:c.606C>A | NP_006205.1:p.Asn202Lys | |
| XM_005252469.2:c.460-4593C>A | XP_005252526.1:n.460-4593C>A | |
| NM_001323080.1:c.306C>A | NP_001310009.1:p.Asn102Lys | |
| NM_001323082.1:c.612C>A | NP_001310011.1:p.Asn204Lys | |
| NM_001323083.1:c.415-4593C>A | NP_001310012.1:n.415-4593C>A | |
| NM_001323084.1:c.312C>A | NP_001310013.1:p.Asn104Lys | |
| NM_006214.4:c.606C>A MANE Select | NP_006205.1:p.Asn202Lys | |
| NM_001037537.2:c.306C>A | NP_001032626.1:p.Asn102Lys | |
| NM_001323080.2:c.306C>A | NP_001310009.1:p.Asn102Lys | |
| NM_001323082.2:c.612C>A | NP_001310011.1:p.Asn204Lys | |
| NM_001323083.2:c.415-4593C>A | NP_001310012.1:n.415-4593C>A | |
| NM_001323084.2:c.312C>A | NP_001310013.1:p.Asn104Lys |