Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848759A>C , CM000681.2:g.35848759A>C | GRCh38 |
| NC_000019.9:g.36339661A>C , CM000681.1:g.36339661A>C | GRCh37 |
| NC_000019.8:g.41031501A>C | NCBI36 |
| NG_013356.2:g.25529T>G , LRG_693:g.25529T>G | |
| NG_051206.1:g.2125A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.1048T>G MANE Select | NP_004637.1:p.Ser350Ala |
| ENST00000378910.10:c.1048T>G MANE Select | ENSP00000368190.4:p.Ser350Ala |
| NM_004646.3:c.1048T>G , LRG_693t1:c.1048T>G | NP_004637.1:p.Ser350Ala |
| ENST00000353632.6:c.1048T>G | ENSP00000343634.5:p.Ser350Ala |
| ENST00000378910.9:c.1048T>G | ENSP00000368190.4:p.Ser350Ala |
| ENST00000592132.1:n.55T>G |