Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74706305G>A , CM000667.2:g.74706305G>A | GRCh38 |
| NC_000005.9:g.74002130G>A , CM000667.1:g.74002130G>A | GRCh37 |
| NC_000005.8:g.74037886G>A | NCBI36 |
| NG_009770.1:g.26162G>A | |
| NG_009770.2:g.71283G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.771+985G>A MANE Select | NP_000512.2:n.771+985G>A |
| ENST00000261416.12:c.771+985G>A MANE Select | ENSP00000261416.7:n.771+985G>A |
| NM_000521.3:c.771+985G>A | NP_000512.1:n.771+985G>A |
| NM_001292004.1:c.96+985G>A | NP_001278933.1:n.96+985G>A |
| NM_001292004.2:c.96+985G>A | NP_001278933.1:n.96+985G>A |
| ENST00000261416.11:c.771+985G>A | ENSP00000261416.7:n.771+985G>A |
| ENST00000511181.5:c.96+985G>A | ENSP00000426285.1:n.96+985G>A |