Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55088939G>C , CM000666.2:g.55088939G>C | GRCh38 |
| NC_000004.11:g.55955106G>C , CM000666.1:g.55955106G>C | GRCh37 |
| NC_000004.10:g.55649863G>C | NCBI36 |
| NG_012004.1:g.41657C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002253.4:c.3439C>G MANE Select | NP_002244.1:p.Pro1147Ala |
| ENST00000263923.5:c.3439C>G MANE Select | ENSP00000263923.4:p.Pro1147Ala |
| NM_002253.2:c.3439C>G | NP_002244.1:p.Pro1147Ala |
| NM_002253.3:c.3439C>G | NP_002244.1:p.Pro1147Ala |
| ENST00000263923.4:c.3439C>G | ENSP00000263923.4:p.Pro1147Ala |
| ENST00000647068.1:n.3452C>G |