Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66239384G>A , CM000674.2:g.66239384G>A | GRCh38 |
| NC_000012.11:g.66633164G>A , CM000674.1:g.66633164G>A | GRCh37 |
| NC_000012.10:g.64919431G>A | NCBI36 |
| NG_021194.1:g.55187G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007199.3:c.888-5102G>A MANE Select | NP_009130.2:n.888-5102G>A |
| ENST00000261233.9:c.888-5102G>A MANE Select | ENSP00000261233.4:n.888-5102G>A |
| NM_001142523.1:c.705-5102G>A | NP_001135995.1:n.705-5102G>A |
| NM_001142523.2:c.705-5102G>A | NP_001135995.1:n.705-5102G>A |
| NM_007199.2:c.888-5102G>A | NP_009130.2:n.888-5102G>A |
| ENST00000261233.8:c.888-5102G>A | ENSP00000261233.4:n.888-5102G>A |
| ENST00000457197.2:c.705-5102G>A | ENSP00000409852.2:n.705-5102G>A |