Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43279187A>G , CM000677.2:g.43279187A>G | GRCh38 |
| NC_000015.9:g.43571385A>G , CM000677.1:g.43571385A>G | GRCh37 |
| NC_000015.8:g.41358677A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052955.3:c.1769T>C MANE Select | NP_443187.1:p.Val590Ala |
| ENST00000452443.3:c.1769T>C MANE Select | ENSP00000389466.2:p.Val590Ala |
| NM_052955.2:c.1769T>C | NP_443187.1:p.Val590Ala |
| ENST00000452443.2:c.1769T>C | ENSP00000389466.2:p.Val590Ala |
| XM_011521200.1:c.1106T>C | XP_011519502.1:p.Val369Ala |
| XM_011521201.1:c.1085T>C | XP_011519503.1:p.Val362Ala |
| XM_011521202.1:c.923T>C | XP_011519504.1:p.Val308Ala |
| XM_011521203.1:c.863T>C | XP_011519505.1:p.Val288Ala |
| XM_017021903.1:c.1772T>C | XP_016877392.1:p.Val591Ala |