Linked Data
dbSNP Id:
rs1003273620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7524860T>A , CM000681.2:g.7524860T>A | GRCh38 |
| NC_000019.9:g.7589746T>A , CM000681.1:g.7589746T>A | GRCh37 |
| NC_000019.8:g.7495746T>A | NCBI36 |
| NG_015806.1:g.7251T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.32-101T>A MANE Select | ENSP00000264079.5:n.32-101T>A | |
| ENST00000264079.10:c.32-101T>A | ENSP00000264079.5:n.32-101T>A | |
| ENST00000394321.9:n.112-101T>A | ||
| ENST00000596390.1:n.148-101T>A | ||
| ENST00000601003.1:c.32-101T>A | ENSP00000469074.1:n.32-101T>A | |
| NM_020533.2:c.32-101T>A | NP_065394.1:n.32-101T>A | |
| XR_936293.1:n.95A>T | ||
| XR_936294.1:n.95A>T | ||
| XR_936295.1:n.95A>T | ||
| XR_936293.2:n.121A>T | ||
| XR_936294.2:n.121A>T | ||
| NM_020533.3:c.32-101T>A MANE Select | NP_065394.1:n.32-101T>A |