Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145917700C>T , CM000663.2:g.145917700C>T | GRCh38 |
| NC_000001.10:g.145517389G>A , CM000663.1:g.145517389G>A | GRCh37 |
| NC_000001.9:g.144228746G>A | NCBI36 |
| NG_032654.2:g.14837G>A , LRG_574:g.14837G>A | |
| NG_033000.3:g.6225G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003846.3:c.172+1G>A MANE Select | NP_003837.1:n.172+1G>A |
| ENST00000369306.8:c.172+1G>A MANE Select | ENSP00000358312.3:n.172+1G>A |
| NM_001184795.1:c.130+1G>A | NP_001171724.1:n.130+1G>A |
| NM_003846.2:c.172+1G>A | NP_003837.1:n.172+1G>A |
| NR_073491.1:n.404+1G>A | |
| NR_073491.2:n.197+1G>A | |
| NR_073492.1:n.398+1G>A | |
| NR_073492.2:n.191+1G>A | |
| NR_073493.2:n.620+1G>A | |
| ENST00000369306.7:c.172+1G>A | ENSP00000358312.3:n.172+1G>A |
| ENST00000537888.1:c.130+1G>A | ENSP00000437510.1:n.130+1G>A |