Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48859554C>T , CM000665.2:g.48859554C>T | GRCh38 |
| NC_000003.11:g.48896987C>T , CM000665.1:g.48896987C>T | GRCh37 |
| NC_000003.10:g.48871991C>T | NCBI36 |
| NG_008171.1:g.44343G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000387.6:c.608+1G>A MANE Select | NP_000378.1:n.608+1G>A |
| ENST00000319017.5:c.608+1G>A MANE Select | ENSP00000326305.4:n.608+1G>A |
| NM_000387.5:c.608+1G>A | NP_000378.1:n.608+1G>A |
| ENST00000319017.4:c.608+1G>A | ENSP00000326305.4:n.608+1G>A |
| ENST00000430379.5:c.389+1G>A | ENSP00000388986.1:n.389+1G>A |
| ENST00000440964.1:c.*438+1G>A | ENSP00000388563.1:n.*438+1G>A |
| XM_006713327.1:c.536-1782G>A | XP_006713390.1:n.536-1782G>A |