Linked Data
dbSNP Id:
rs56100672
ExAC:
5:148207163 G / A
gnomAD v2:
5-148207163-G-A
gnomAD v3:
5-148827600-G-A
gnomAD v4:
5-148827600-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827600G>A , CM000667.2:g.148827600G>A | GRCh38 |
| NC_000005.9:g.148207163G>A , CM000667.1:g.148207163G>A | GRCh37 |
| NC_000005.8:g.148187356G>A | NCBI36 |
| NG_016421.1:g.6008G>A | |
| NG_016421.2:g.6008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.769G>A MANE Select | ENSP00000305372.4:p.Gly257Arg | |
| ENST00000305988.5:c.769G>A | ENSP00000305372.4:p.Gly257Arg | |
| NM_000024.5:c.769G>A | NP_000015.1:p.Gly257Arg | |
| NM_000024.6:c.769G>A MANE Select | NP_000015.2:p.Gly257Arg |