Linked Data
ClinVar Variation Id:
299262
dbSNP Id:
rs368542152
ExAC:
10:13340254 T / A
gnomAD v2:
10-13340254-T-A
gnomAD v3:
10-13298254-T-A
gnomAD v4:
10-13298254-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13298254T>A , CM000672.2:g.13298254T>A | GRCh38 |
| NC_000010.10:g.13340254T>A , CM000672.1:g.13340254T>A | GRCh37 |
| NC_000010.9:g.13380260T>A | NCBI36 |
| NG_012862.1:g.6877A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.76-9A>T MANE Select | ENSP00000263038.4:n.76-9A>T | |
| ENST00000263038.8:c.76-9A>T | ENSP00000263038.4:n.76-9A>T | |
| ENST00000396913.6:c.-167+1166A>T | ENSP00000380121.2:n.-167+1166A>T | |
| ENST00000396920.7:c.23-13A>T | ENSP00000380126.3:n.23-13A>T | |
| ENST00000453759.6:c.-225-9A>T | ENSP00000412525.2:n.-225-9A>T | |
| ENST00000463730.1:n.131-9A>T | ||
| ENST00000479604.1:c.76-9A>T | ENSP00000420117.1:n.76-9A>T | |
| NM_001037537.1:c.-167+1166A>T | NP_001032626.1:n.-167+1166A>T | |
| NM_006214.3:c.76-9A>T | NP_006205.1:n.76-9A>T | |
| XM_005252469.2:c.121-9A>T | XP_005252526.1:n.121-9A>T | |
| NM_001323080.1:c.-225-9A>T | NP_001310009.1:n.-225-9A>T | |
| NM_001323082.1:c.76-9A>T | NP_001310011.1:n.76-9A>T | |
| NM_001323083.1:c.76-9A>T | NP_001310012.1:n.76-9A>T | |
| NM_001323084.1:c.-167+1166A>T | NP_001310013.1:n.-167+1166A>T | |
| NM_006214.4:c.76-9A>T MANE Select | NP_006205.1:n.76-9A>T | |
| NM_001037537.2:c.-167+1166A>T | NP_001032626.1:n.-167+1166A>T | |
| NM_001323080.2:c.-225-9A>T | NP_001310009.1:n.-225-9A>T | |
| NM_001323082.2:c.76-9A>T | NP_001310011.1:n.76-9A>T | |
| NM_001323083.2:c.76-9A>T | NP_001310012.1:n.76-9A>T | |
| NM_001323084.2:c.-167+1166A>T | NP_001310013.1:n.-167+1166A>T |