Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136676677T>C , CM000671.2:g.136676677T>C | GRCh38 |
| NC_000009.11:g.139571129T>C , CM000671.1:g.139571129T>C | GRCh37 |
| NC_000009.10:g.138690950T>C | NCBI36 |
| NG_008090.1:g.15783A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.496A>G MANE Select | ENSP00000360761.2:p.Lys166Glu | |
| ENST00000371694.7:c.492+284A>G | ENSP00000360759.3:n.492+284A>G | |
| ENST00000371696.6:c.496A>G | ENSP00000360761.2:p.Lys166Glu | |
| ENST00000472820.1:n.424A>G | ||
| ENST00000538402.1:c.496A>G | ENSP00000438919.1:p.Lys166Glu | |
| NM_001012727.1:c.492+284A>G | NP_001012745.1:n.492+284A>G | |
| NM_006412.3:c.496A>G | NP_006403.2:p.Lys166Glu | |
| NM_006412.4:c.496A>G MANE Select | NP_006403.2:p.Lys166Glu | |
| NM_001012727.2:c.492+284A>G | NP_001012745.1:n.492+284A>G |