Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674741T>C , CM000671.2:g.136674741T>C | GRCh38 |
| NC_000009.11:g.139569193T>C , CM000671.1:g.139569193T>C | GRCh37 |
| NC_000009.10:g.138689014T>C | NCBI36 |
| NG_008090.1:g.17719A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.655A>G MANE Select | ENSP00000360761.2:p.Thr219Ala | |
| ENST00000371694.7:c.559A>G | ENSP00000360759.3:p.Thr187Ala | |
| ENST00000371696.6:c.655A>G | ENSP00000360761.2:p.Thr219Ala | |
| ENST00000472820.1:n.583A>G | ||
| ENST00000538402.1:c.655A>G | ENSP00000438919.1:p.Thr219Ala | |
| NM_001012727.1:c.559A>G | NP_001012745.1:p.Thr187Ala | |
| NM_006412.3:c.655A>G | NP_006403.2:p.Thr219Ala | |
| NM_006412.4:c.655A>G MANE Select | NP_006403.2:p.Thr219Ala | |
| NM_001012727.2:c.559A>G | NP_001012745.1:p.Thr187Ala |