MyVariant.info:
GRCh37
chr5:g.177613544C>A
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178186543C>A , CM000667.2:g.178186543C>A | GRCh38 |
| NC_000005.9:g.177613544C>A , CM000667.1:g.177613544C>A | GRCh37 |
| NC_000005.8:g.177546150C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463439.3:c.757G>T MANE Select | ENSP00000497178.1:p.Gly253Cys | |
| ENST00000463439.1:n.757G>T | ||
| NR_003281.1:n.890G>T | ||
| NM_001358008.1:c.757G>T | NP_001344937.1:p.Gly253Cys | |
| NM_001358008.2:c.757G>T MANE Select | NP_001344937.1:p.Gly253Cys |