Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30845180G>T , CM000665.2:g.30845180G>T | GRCh38 |
| NC_000003.11:g.30886672G>T , CM000665.1:g.30886672G>T | GRCh37 |
| NC_000003.10:g.30861676G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282538.10:c.652-714C>A MANE Select | ENSP00000282538.5:n.652-714C>A | |
| ENST00000282538.9:c.652-714C>A | ENSP00000282538.5:n.652-714C>A | |
| ENST00000454381.3:c.652-714C>A | ENSP00000427059.1:n.652-714C>A | |
| NM_207359.2:c.652-714C>A | NP_997242.2:n.652-714C>A | |
| XM_017006297.1:c.595-714C>A | XP_016861786.1:n.595-714C>A | |
| XM_017006298.1:c.-7-916C>A | XP_016861787.1:n.-7-916C>A | |
| NM_207359.3:c.652-714C>A MANE Select | NP_997242.2:n.652-714C>A |