Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26727725G>A , CM000664.2:g.26727725G>A | GRCh38 |
| NC_000002.11:g.26950593G>A , CM000664.1:g.26950593G>A | GRCh37 |
| NC_000002.10:g.26804097G>A | NCBI36 |
| NG_033884.1:g.40013G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302909.4:c.342G>A MANE Select | ENSP00000306275.3:p.Ala114= | |
| ENST00000302909.3:c.342G>A | ENSP00000306275.3:p.Ala114= | |
| ENST00000620977.1:c.-28G>A | ENSP00000483136.1:n.-28G>A | |
| NM_002246.2:c.342G>A | NP_002237.1:p.Ala114= | |
| XM_005264293.1:c.12G>A | XP_005264350.1:p.Ala4= | |
| XM_005264293.2:c.12G>A | XP_005264350.1:p.Ala4= | |
| NM_002246.3:c.342G>A MANE Select | NP_002237.1:p.Ala114= |