Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75769590C>A , CM000669.2:g.75769590C>A | GRCh38 |
| NC_000007.13:g.75398908C>A , CM000669.1:g.75398908C>A | GRCh37 |
| NC_000007.12:g.75236844C>A | NCBI36 |
| NG_015989.1:g.25157G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005180.9:c.*103G>T MANE Select | ENSP00000005180.4:n.*103G>T | |
| ENST00000005180.8:c.*103G>T | ENSP00000005180.4:n.*103G>T | |
| ENST00000394905.2:c.*103G>T | ENSP00000378365.2:n.*103G>T | |
| NM_006072.4:c.*103G>T | NP_006063.1:n.*103G>T | |
| XM_017011671.1:c.*103G>T | XP_016867160.1:n.*103G>T | |
| XM_017011672.1:c.*103G>T | XP_016867161.1:n.*103G>T | |
| NM_001371936.1:c.*103G>T | NP_001358865.1:n.*103G>T | |
| NM_001371938.1:c.*103G>T MANE Select | NP_001358867.1:n.*103G>T |