Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814019C>T , CM000671.2:g.129814019C>T | GRCh38 |
| NC_000009.11:g.132576298C>T , CM000671.1:g.132576298C>T | GRCh37 |
| NC_000009.10:g.131616119C>T | NCBI36 |
| NG_008049.1:g.15144G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000113.3:c.952G>A MANE Select | NP_000104.1:p.Gly318Ser |
| ENST00000351698.5:c.952G>A MANE Select | ENSP00000345719.4:p.Gly318Ser |
| NM_000113.2:c.952G>A | NP_000104.1:p.Gly318Ser |
| ENST00000351698.4:c.952G>A | ENSP00000345719.4:p.Gly318Ser |
| ENST00000474192.1:n.536G>A | |
| ENST00000651202.1:c.*220G>A | ENSP00000498222.1:n.*220G>A |
| XR_929731.3:n.1147G>A |