Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56454442A>C , CM000674.2:g.56454442A>C | GRCh38 |
| NC_000012.11:g.56848226A>C , CM000674.1:g.56848226A>C | GRCh37 |
| NC_000012.10:g.55134493A>C | NCBI36 |
| NG_021397.1:g.5210T>G | |
| NG_021397.2:g.19725T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012064.4:c.172T>G MANE Select | NP_036196.1:p.Ser58Ala |
| ENST00000652304.1:c.172T>G MANE Select | ENSP00000498622.1:p.Ser58Ala |
| NM_012064.3:c.172T>G | NP_036196.1:p.Ser58Ala |
| ENST00000257979.4:c.172T>G | ENSP00000257979.4:p.Ser58Ala |
| ENST00000555551.1:n.317-687T>G | |
| ENST00000648304.1:c.183-687T>G | ENSP00000497190.1:n.183-687T>G |
| ENST00000648442.1:n.494-687T>G | |
| ENST00000650166.1:n.250-687T>G | |
| XM_011538354.1:c.76-687T>G | XP_011536656.1:n.76-687T>G |