Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673898T>C , CM000671.2:g.136673898T>C | GRCh38 |
| NC_000009.11:g.139568350T>C , CM000671.1:g.139568350T>C | GRCh37 |
| NC_000009.10:g.138688171T>C | NCBI36 |
| NG_008090.1:g.18562A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.691A>G MANE Select | ENSP00000360761.2:p.Ile231Val | |
| ENST00000371694.7:c.595A>G | ENSP00000360759.3:p.Ile199Val | |
| ENST00000371696.6:c.691A>G | ENSP00000360761.2:p.Ile231Val | |
| ENST00000472820.1:n.619A>G | ||
| ENST00000538402.1:c.691A>G | ENSP00000438919.1:p.Ile231Val | |
| NM_001012727.1:c.595A>G | NP_001012745.1:p.Ile199Val | |
| NM_006412.3:c.691A>G | NP_006403.2:p.Ile231Val | |
| NM_006412.4:c.691A>G MANE Select | NP_006403.2:p.Ile231Val | |
| NM_001012727.2:c.595A>G | NP_001012745.1:p.Ile199Val |