Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.[48965326C>T;48965330T>G] , CM000681.2:g.[48965326C>T;48965330T>G] | GRCh38 |
| NC_000019.9:g.[49468583C>T;49468587T>G] , CM000681.1:g.[49468583C>T;49468587T>G] | GRCh37 |
| NC_000019.8:g.[54160395C>T;54160399T>G] | NCBI36 |
| NG_008152.1:g.[5018C>T;5022T>G] |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.[-182C>T;-178T>G] MANE Select | NP_000137.2:n.[-182C>T;-178T>G] |
| ENST00000331825.11:c.[-182C>T;-178T>G] MANE Select | ENSP00000366525.2:n.[-182C>T;-178T>G] |
| NM_000146.3:c.[-182C>T;-178T>G] | NP_000137.2:n.[-182C>T;-178T>G] |
| ENST00000331825.10:c.[-182C>T;-178T>G] | ENSP00000366525.2:n.[-182C>T;-178T>G] |
| ENST00000622577.2:c.[-182C>T;-178T>G] | ENSP00000484043.1:n.[-182C>T;-178T>G] |
| XM_024451447.1:c.[329C>T;333T>G] | XP_024307215.1:p.[Ala110Val;Gly111=] |