Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119294867C>A , CM000665.2:g.119294867C>A | GRCh38 |
| NC_000003.11:g.119013714C>A , CM000665.1:g.119013714C>A | GRCh37 |
| NC_000003.10:g.120496404C>A | NCBI36 |
| NG_007665.2:g.5495C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.-38C>A MANE Select | ENSP00000264245.4:n.-38C>A | |
| ENST00000264245.8:c.-38C>A | ENSP00000264245.4:n.-38C>A | |
| NM_020754.3:c.-38C>A | NP_065805.2:n.-38C>A | |
| XM_006713714.2:c.-38C>A | XP_006713777.1:n.-38C>A | |
| XM_006713714.3:c.-38C>A | XP_006713777.1:n.-38C>A | |
| XM_017006955.1:c.-385C>A | XP_016862444.1:n.-385C>A | |
| NM_020754.4:c.-38C>A MANE Select | NP_065805.2:n.-38C>A |