Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57029584A>C , CM000674.2:g.57029584A>C | GRCh38 |
| NC_000012.11:g.57423368A>C , CM000674.1:g.57423368A>C | GRCh37 |
| NC_000012.10:g.55709635A>C | NCBI36 |
| NG_012104.1:g.25526T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005379.4:c.2728T>G MANE Select | NP_005370.1:p.Ser910Ala |
| ENST00000300119.8:c.2728T>G MANE Select | ENSP00000300119.3:p.Ser910Ala |
| NM_001256041.1:c.2728T>G | NP_001242970.1:p.Ser910Ala |
| NM_001256041.2:c.2728T>G | NP_001242970.1:p.Ser910Ala |
| NM_005379.3:c.2728T>G | NP_005370.1:p.Ser910Ala |
| ENST00000300119.7:c.2728T>G | ENSP00000300119.3:p.Ser910Ala |
| ENST00000442789.6:c.2728T>G | ENSP00000393392.2:p.Ser910Ala |
| ENST00000477864.1:n.291T>G | |
| ENST00000554234.5:c.*173T>G | ENSP00000451033.1:n.*173T>G |