Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241851281G>A , CM000664.2:g.241851281G>A | GRCh38 |
| NC_000002.11:g.242793433G>A , CM000664.1:g.242793433G>A | GRCh37 |
| NC_000002.10:g.242442106G>A | NCBI36 |
| NG_012110.1:g.12626C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334409.10:c.644C>T MANE Select | ENSP00000335062.5:p.Ala215Val | |
| ENST00000334409.9:c.644C>T | ENSP00000335062.5:p.Ala215Val | |
| ENST00000343705.3:c.318C>T | ||
| ENST00000418831.1:c.*207C>T | ENSP00000390296.1:n.*207C>T | |
| NM_005018.2:c.644C>T | NP_005009.2:p.Ala215Val | |
| XM_017004293.1:c.641C>T | XP_016859782.1:p.Ala214Val | |
| NM_005018.3:c.644C>T MANE Select | NP_005009.2:p.Ala215Val |