Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236559707C>A , CM000663.2:g.236559707C>A | GRCh38 |
| NC_000001.10:g.236723007C>A , CM000663.1:g.236723007C>A | GRCh37 |
| NC_000001.9:g.234789630C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018072.6:c.4770+7G>T MANE Select | NP_060542.4:n.4770+7G>T |
| ENST00000366582.8:c.4770+7G>T MANE Select | ENSP00000355541.3:n.4770+7G>T |
| NM_018072.5:c.4770+7G>T | NP_060542.4:n.4770+7G>T |
| ENST00000366581.6:c.4527+7G>T | ENSP00000355540.2:n.4527+7G>T |
| ENST00000366582.7:c.4770+7G>T | ENSP00000355541.3:n.4770+7G>T |
| XM_011544219.1:c.4770+7G>T | XP_011542521.1:n.4770+7G>T |