Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10475003G>T , CM000663.2:g.10475003G>T | GRCh38 |
| NC_000001.10:g.10535060G>T , CM000663.1:g.10535060G>T | GRCh37 |
| NC_000001.9:g.10457647G>T | NCBI36 |
| NG_008340.1:g.5058G>T | |
| NG_029098.1:g.2554C>A | |
| NG_008340.2:g.5058G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004565.3:c.36+1G>T MANE Select | NP_004556.1:n.36+1G>T |
| ENST00000356607.9:c.36+1G>T MANE Select | ENSP00000349016.4:n.36+1G>T |
| NM_004565.2:c.36+1G>T | NP_004556.1:n.36+1G>T |
| ENST00000356607.8:c.36+1G>T | ENSP00000349016.4:n.36+1G>T |
| ENST00000472851.1:n.293+2423G>T | |
| ENST00000491661.2:c.21+1G>T | ENSP00000465473.1:n.21+1G>T |
| XM_011541580.1:c.36+1G>T | XP_011539882.1:n.36+1G>T |