Linked Data
dbSNP Id:
rs761033790
ExAC:
5:148207156 G / A
gnomAD v2:
5-148207156-G-A
gnomAD v3:
5-148827593-G-A
gnomAD v4:
5-148827593-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827593G>A , CM000667.2:g.148827593G>A | GRCh38 |
| NC_000005.9:g.148207156G>A , CM000667.1:g.148207156G>A | GRCh37 |
| NC_000005.8:g.148187349G>A | NCBI36 |
| NG_016421.1:g.6001G>A | |
| NG_016421.2:g.6001G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.762G>A MANE Select | ENSP00000305372.4:p.Thr254= | |
| ENST00000305988.5:c.762G>A | ENSP00000305372.4:p.Thr254= | |
| NM_000024.5:c.762G>A | NP_000015.1:p.Thr254= | |
| NM_000024.6:c.762G>A MANE Select | NP_000015.2:p.Thr254= |