Linked Data
dbSNP Id:
rs749361927
ExAC:
5:158747477 C / T
gnomAD v2:
5-158747477-C-T
gnomAD v4:
5-159320469-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320469C>T , CM000667.2:g.159320469C>T | GRCh38 |
| NC_000005.9:g.158747477C>T , CM000667.1:g.158747477C>T | GRCh37 |
| NC_000005.8:g.158680055C>T | NCBI36 |
| NG_009618.1:g.15005G>A , LRG_71:g.15005G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-97G>A | ENSP00000512849.1:n.-97G>A | |
| ENST00000696751.1:c.*29G>A | ENSP00000512850.1:n.*29G>A | |
| ENST00000231228.3:c.534G>A MANE Select | ENSP00000231228.2:p.Glu178= | |
| ENST00000231228.2:c.534G>A | ENSP00000231228.2:p.Glu178= | |
| NM_002187.2:c.534G>A , LRG_71t1:c.534G>A | NP_002178.2:p.Glu178= | |
| XR_001742945.1:n.20C>T | ||
| NM_002187.3:c.534G>A MANE Select | NP_002178.2:p.Glu178= |