Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48884144C>T , CM000665.2:g.48884144C>T | GRCh38 |
| NC_000003.11:g.48921577C>T , CM000665.1:g.48921577C>T | GRCh37 |
| NC_000003.10:g.48896581C>T | NCBI36 |
| NG_008171.1:g.19753G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319017.5:c.199-20G>A MANE Select | ENSP00000326305.4:n.199-20G>A | |
| ENST00000319017.4:c.199-20G>A | ENSP00000326305.4:n.199-20G>A | |
| ENST00000430379.5:c.198+7836G>A | ENSP00000388986.1:n.198+7836G>A | |
| ENST00000440964.1:c.*29-20G>A | ENSP00000388563.1:n.*29-20G>A | |
| NM_000387.5:c.199-20G>A | NP_000378.1:n.199-20G>A | |
| XM_006713327.1:c.199-20G>A | XP_006713390.1:n.199-20G>A | |
| NM_000387.6:c.199-20G>A MANE Select | NP_000378.1:n.199-20G>A |