Linked Data
dbSNP Id:
rs748438480
ExAC:
5:66479913 C / T
gnomAD v2:
5-66479913-C-T
gnomAD v3:
5-67184085-C-T
gnomAD v4:
5-67184085-C-T
COSMIC:
COSM3920287
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.67184085C>T , CM000667.2:g.67184085C>T | GRCh38 |
| NC_000005.9:g.66479913C>T , CM000667.1:g.66479913C>T | GRCh37 |
| NC_000005.8:g.66515669C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256447.5:c.758G>A MANE Select | ENSP00000256447.4:p.Gly253Glu | |
| NM_005582.2:c.758G>A | NP_005573.2:p.Gly253Glu | |
| XM_005248504.3:c.719G>A | XP_005248561.1:p.Gly240Glu | |
| XM_005248504.4:c.719G>A | XP_005248561.1:p.Gly240Glu | |
| NM_005582.3:c.758G>A MANE Select | NP_005573.2:p.Gly253Glu |