Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272855T>C , CM000676.2:g.91272855T>C | GRCh38 |
| NC_000014.8:g.91739199T>C , CM000676.1:g.91739199T>C | GRCh37 |
| NC_000014.7:g.90808952T>C | NCBI36 |
| NG_033118.1:g.149990A>G | |
| NG_033118.2:g.149990A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5857A>G MANE Select | ENSP00000374507.6:p.Ile1953Val | |
| ENST00000331194.8:c.1291A>G | ENSP00000330332.8:p.Ile431Val | |
| ENST00000389857.10:c.5857A>G | ENSP00000374507.6:p.Ile1953Val | |
| ENST00000556726.5:c.2085A>G | ||
| NM_001080414.3:c.5857A>G | NP_001073883.2:p.Ile1953Val | |
| XM_011536796.1:c.5749A>G | XP_011535098.1:p.Ile1917Val | |
| XM_011536796.2:c.5749A>G | XP_011535098.1:p.Ile1917Val | |
| XM_017021336.1:c.2938A>G | XP_016876825.1:p.Ile980Val | |
| NM_001080414.4:c.5857A>G MANE Select | NP_001073883.2:p.Ile1953Val |