Linked Data
dbSNP Id:
rs747169606
ExAC:
5:95751763 C / A
gnomAD v2:
5-95751763-C-A
gnomAD v4:
5-96416059-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96416059C>A , CM000667.2:g.96416059C>A | GRCh38 |
| NC_000005.9:g.95751763C>A , CM000667.1:g.95751763C>A | GRCh37 |
| NC_000005.8:g.95777519C>A | NCBI36 |
| NG_021161.1:g.22223G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.683G>T MANE Select | ENSP00000308024.2:p.Gly228Val | |
| ENST00000311106.7:c.683G>T | ENSP00000308024.2:p.Gly228Val | |
| ENST00000508626.5:c.542G>T | ENSP00000421600.1:p.Gly181Val | |
| NM_000439.4:c.683G>T | NP_000430.3:p.Gly228Val | |
| NM_001177875.1:c.542G>T | NP_001171346.1:p.Gly181Val | |
| NR_130776.1:n.354+36407C>A | ||
| NM_000439.5:c.683G>T MANE Select | NP_000430.3:p.Gly228Val | |
| NM_001177875.2:c.542G>T | NP_001171346.1:p.Gly181Val |