Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99218075T>C , CM000671.2:g.99218075T>C | GRCh38 |
| NC_000009.11:g.101980357T>C , CM000671.1:g.101980357T>C | GRCh37 |
| NC_000009.10:g.101020178T>C | NCBI36 |
| NG_008928.1:g.8890A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033087.4:c.1110A>G MANE Select | NP_149078.1:p.Ser370= |
| ENST00000476832.2:c.1110A>G MANE Select | ENSP00000417764.1:p.Ser370= |
| NM_033087.3:c.1110A>G | NP_149078.1:p.Ser370= |
| NR_024532.1:n.1339A>G | |
| NR_024532.2:n.1317A>G | |
| ENST00000238477.5:c.*852A>G | ENSP00000432675.2:n.*852A>G |
| ENST00000319033.7:c.831A>G | ENSP00000326609.6:p.Ser277= |
| ENST00000476832.1:c.1110A>G | ENSP00000417764.1:p.Ser370= |