Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69152148G>A , CM000664.2:g.69152148G>A | GRCh38 |
| NC_000002.11:g.69379280G>A , CM000664.1:g.69379280G>A | GRCh37 |
| NC_000002.10:g.69232784G>A | NCBI36 |
| NG_012649.1:g.144005G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032208.3:c.952-21G>A MANE Select | NP_115584.1:n.952-21G>A |
| ENST00000303714.9:c.952-21G>A MANE Select | ENSP00000301945.4:n.952-21G>A |
| NM_032208.2:c.952-21G>A | NP_115584.1:n.952-21G>A |
| NM_053034.2:c.952-21G>A | NP_444262.1:n.952-21G>A |
| ENST00000303714.8:c.952-21G>A | ENSP00000301945.4:n.952-21G>A |
| ENST00000409349.7:c.952-21G>A | ENSP00000386494.3:n.952-21G>A |
| ENST00000679548.1:c.795-21G>A | |
| XM_011533124.1:c.952-21G>A | XP_011531426.1:n.952-21G>A |
| XR_939725.1:n.1099-21G>A |