Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165755020C>A , CM000664.2:g.165755020C>A | GRCh38 |
| NC_000002.11:g.166611530C>A , CM000664.1:g.166611530C>A | GRCh37 |
| NC_000002.10:g.166319776C>A | NCBI36 |
| NG_012069.1:g.44274G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004482.4:c.1436G>T MANE Select | NP_004473.2:p.Arg479Leu |
| ENST00000392701.8:c.1436G>T MANE Select | ENSP00000376465.3:p.Arg479Leu |
| NM_004482.3:c.1436G>T | NP_004473.2:p.Arg479Leu |
| ENST00000392701.7:c.1436G>T | ENSP00000376465.3:p.Arg479Leu |
| ENST00000409882.5:c.650G>T | ENSP00000386955.1:p.Arg217Leu |
| XM_005246449.1:c.1436G>T | XP_005246506.1:p.Arg479Leu |
| XM_011510929.1:c.1436G>T | XP_011509231.1:p.Arg479Leu |
| XM_017003770.1:c.1436G>T | XP_016859259.1:p.Arg479Leu |
| XR_002959253.1:n.1712G>T |