Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203503427G>A , CM000663.2:g.203503427G>A | GRCh38 |
| NC_000001.10:g.203472555G>A , CM000663.1:g.203472555G>A | GRCh37 |
| NC_000001.9:g.201739178G>A | NCBI36 |
| NG_022886.1:g.14285G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367222.7:c.829-123G>A MANE Select | ENSP00000356191.2:n.829-123G>A | |
| ENST00000367222.6:c.829-123G>A | ENSP00000356191.2:n.829-123G>A | |
| NM_014359.3:c.829-123G>A | NP_055174.1:n.829-123G>A | |
| XM_011509406.1:c.829-123G>A | XP_011507708.1:n.829-123G>A | |
| XM_011509406.2:c.829-123G>A | XP_011507708.1:n.829-123G>A | |
| NM_014359.4:c.829-123G>A MANE Select | NP_055174.1:n.829-123G>A |