Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37974709T>G , CM000671.2:g.37974709T>G | GRCh38 |
| NC_000009.11:g.37974706T>G , CM000671.1:g.37974706T>G | GRCh37 |
| NC_000009.10:g.37964706T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377707.4:c.967A>C MANE Select | ENSP00000366936.3:p.Ser323Arg | |
| ENST00000377707.3:c.967A>C | ENSP00000366936.3:p.Ser323Arg | |
| ENST00000540557.1:c.*180A>C | ENSP00000457548.1:n.*180A>C | |
| NM_003028.2:c.967A>C | NP_003019.2:p.Ser323Arg | |
| NM_003028.3:c.967A>C MANE Select | NP_003019.2:p.Ser323Arg |