dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118606652A>C , CM000673.2:g.118606652A>C | GRCh38 |
| NC_000011.9:g.118477367A>C , CM000673.1:g.118477367A>C | GRCh37 |
| NC_000011.8:g.117982577A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361417.6:c.-199A>C | ENSP00000354498.2:n.-199A>C | |
| NM_015157.3:c.-199A>C | NP_055972.1:n.-199A>C | |
| XM_011542709.1:c.-42A>C | XP_011541011.1:n.-42A>C | |
| XM_011542709.2:c.-42A>C | XP_011541011.1:n.-42A>C | |
| NM_015157.4:c.-199A>C | NP_055972.1:n.-199A>C |