Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124420A>G , CM000664.2:g.71124420A>G | GRCh38 |
| NC_000002.11:g.71351550A>G , CM000664.1:g.71351550A>G | GRCh37 |
| NC_000002.10:g.71205058A>G | NCBI36 |
| NG_008977.1:g.10845T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032601.4:c.164T>C MANE Select | NP_115990.3:p.Val55Ala |
| ENST00000244217.6:c.164T>C MANE Select | ENSP00000244217.5:p.Val55Ala |
| NM_032601.3:c.164T>C | NP_115990.3:p.Val55Ala |
| ENST00000244217.5:c.164T>C | ENSP00000244217.5:p.Val55Ala |
| ENST00000413592.5:c.32T>C | ENSP00000391140.1:p.Val11Ala |
| ENST00000486135.1:c.-122T>C | ENSP00000441569.1:n.-122T>C |
| ENST00000494660.6:c.-122T>C | ENSP00000437361.1:n.-122T>C |
| XM_005264613.2:c.164T>C | XP_005264670.1:p.Val55Ala |
| XR_939729.1:n.233T>C | |
| XR_939729.2:n.233T>C |