Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184059934T>G , CM000665.2:g.184059934T>G | GRCh38 |
| NC_000003.11:g.183777722T>G , CM000665.1:g.183777722T>G | GRCh37 |
| NC_000003.10:g.185260416T>G | NCBI36 |
| NG_012749.1:g.11888T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1032T>G MANE Select | ENSP00000322617.1:p.Pro344= | |
| ENST00000318351.1:c.1032T>G | ENSP00000322617.1:p.Pro344= | |
| NM_130770.2:c.1032T>G | NP_570126.2:p.Pro344= | |
| NM_130770.3:c.1032T>G MANE Select | NP_570126.2:p.Pro344= |