Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33408569T>C , CM000682.2:g.33408569T>C | GRCh38 |
| NC_000020.10:g.31996375T>C , CM000682.1:g.31996375T>C | GRCh37 |
| NC_000020.9:g.31460036T>C | NCBI36 |
| NG_011622.1:g.40324A>G , LRG_332:g.40324A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003098.3:c.1456A>G MANE Select | NP_003089.1:p.Ile486Val |
| ENST00000217381.3:c.1456A>G MANE Select | ENSP00000217381.2:p.Ile486Val |
| NM_003098.2:c.1456A>G , LRG_332t1:c.1456A>G | NP_003089.1:p.Ile486Val |
| ENST00000217381.2:c.1456A>G | ENSP00000217381.2:p.Ile486Val |
| XM_005260517.1:c.1453A>G | XP_005260574.1:p.Ile485Val |
| XM_011529007.1:c.1488A>G | XP_011527309.1:p.Pro496= |
| XM_011529008.1:c.1485A>G | XP_011527310.1:p.Pro495= |
| XM_024451971.1:c.1129A>G | XP_024307739.1:p.Ile377Val |
| XR_936612.1:n.1492A>G |