Linked Data
dbSNP Id:
rs751093596
ExAC:
6:49587002 G / A
gnomAD v2:
6-49587002-G-A
gnomAD v3:
6-49619289-G-A
gnomAD v4:
6-49619289-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49619289G>A , CM000668.2:g.49619289G>A | GRCh38 |
| NC_000006.11:g.49587002G>A , CM000668.1:g.49587002G>A | GRCh37 |
| NC_000006.10:g.49694961G>A | NCBI36 |
| NG_011704.1:g.22586C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371175.10:c.231C>T MANE Select | ENSP00000360217.4:p.Phe77= | |
| ENST00000642530.1:n.506C>T | ||
| ENST00000646272.1:c.231C>T | ENSP00000494337.1:p.Phe77= | |
| ENST00000646939.1:c.231C>T | ENSP00000494709.1:p.Phe77= | |
| ENST00000646963.1:c.231C>T | ENSP00000495337.1:p.Phe77= | |
| ENST00000229810.9:c.231C>T | ENSP00000229810.8:p.Phe77= | |
| ENST00000371175.8:c.231C>T | ENSP00000360217.4:p.Phe77= | |
| ENST00000618248.3:c.231C>T | ENSP00000482984.1:p.Phe77= | |
| NM_000324.2:c.231C>T | NP_000315.2:p.Phe77= | |
| XM_011514788.1:c.231C>T | XP_011513090.1:p.Phe77= | |
| NM_000324.3:c.231C>T MANE Select | NP_000315.2:p.Phe77= |