Linked Data
dbSNP Id:
rs1667339993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328436C>A , CM000664.2:g.29328436C>A | GRCh38 |
| NC_000002.11:g.29551302C>A , CM000664.1:g.29551302C>A | GRCh37 |
| NC_000002.10:g.29404806C>A | NCBI36 |
| NG_009445.1:g.598131G>T , LRG_488:g.598131G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1328G>T MANE Select | ENSP00000373700.3:p.Cys443Phe | |
| ENST00000389048.7:c.1328G>T | ENSP00000373700.3:p.Cys443Phe | |
| ENST00000618119.4:c.197G>T | ENSP00000482733.1:p.Cys66Phe | |
| NM_004304.4:c.1328G>T | NP_004295.2:p.Cys443Phe | |
| XR_939920.1:n.744C>A | ||
| XR_939921.1:n.680+5908C>A | ||
| XR_001738688.2:n.2258G>T | ||
| XR_939920.2:n.634C>A | ||
| XR_939921.2:n.576+5908C>A | ||
| NM_004304.5:c.1328G>T MANE Select | NP_004295.2:p.Cys443Phe |