gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178186543C>G , CM000667.2:g.178186543C>G | GRCh38 |
| NC_000005.9:g.177613544C>G , CM000667.1:g.177613544C>G | GRCh37 |
| NC_000005.8:g.177546150C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463439.3:c.757G>C MANE Select | ENSP00000497178.1:p.Gly253Arg | |
| ENST00000463439.1:n.757G>C | ||
| NR_003281.1:n.890G>C | ||
| NM_001358008.1:c.757G>C | NP_001344937.1:p.Gly253Arg | |
| NM_001358008.2:c.757G>C MANE Select | NP_001344937.1:p.Gly253Arg |