Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119511592A>G , CM000663.2:g.119511592A>G | GRCh38 |
| NC_000001.10:g.120054215A>G , CM000663.1:g.120054215A>G | GRCh37 |
| NC_000001.9:g.119855738A>G | NCBI36 |
| NG_050909.1:g.9481A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000862.3:c.235A>G MANE Select | NP_000853.1:p.Ile79Val |
| ENST00000369413.8:c.235A>G MANE Select | ENSP00000358421.3:p.Ile79Val |
| NM_000862.2:c.235A>G | NP_000853.1:p.Ile79Val |
| NM_001328615.1:c.235A>G | NP_001315544.1:p.Ile79Val |
| ENST00000369413.7:c.235A>G | ENSP00000358421.3:p.Ile79Val |
| ENST00000492140.1:n.370A>G | |
| ENST00000528909.1:c.235A>G | ENSP00000432268.1:p.Ile79Val |
| ENST00000531340.5:c.235A>G | ENSP00000435999.1:p.Ile79Val |
| XM_011541314.1:c.241A>G | XP_011539616.1:p.Ile81Val |