Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165749830G>A , CM000664.2:g.165749830G>A | GRCh38 |
| NC_000002.11:g.166606340G>A , CM000664.1:g.166606340G>A | GRCh37 |
| NC_000002.10:g.166314586G>A | NCBI36 |
| NG_012069.1:g.49464C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004482.4:c.1691C>T MANE Select | NP_004473.2:p.Ala564Val |
| ENST00000392701.8:c.1691C>T MANE Select | ENSP00000376465.3:p.Ala564Val |
| NM_004482.3:c.1691C>T | NP_004473.2:p.Ala564Val |
| ENST00000392701.7:c.1691C>T | ENSP00000376465.3:p.Ala564Val |
| ENST00000409882.5:c.905C>T | ENSP00000386955.1:p.Ala302Val |
| XM_005246449.1:c.1691C>T | XP_005246506.1:p.Ala564Val |
| XM_011510929.1:c.1691C>T | XP_011509231.1:p.Ala564Val |
| XM_017003770.1:c.1691C>T | XP_016859259.1:p.Ala564Val |