Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740238G>C , CM000685.2:g.153740238G>C | GRCh38 |
| NC_000023.10:g.153005692G>C , CM000685.1:g.153005692G>C | GRCh37 |
| NC_000023.9:g.152658886G>C | NCBI36 |
| NG_009022.2:g.20371G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.1634+1G>C MANE Select | NP_000024.2:n.1634+1G>C |
| ENST00000218104.6:c.1634+1G>C MANE Select | ENSP00000218104.3:n.1634+1G>C |
| NM_000033.3:c.1634+1G>C | NP_000024.2:n.1634+1G>C |
| ENST00000218104.5:c.1634+1G>C | ENSP00000218104.3:n.1634+1G>C |
| ENST00000443684.2:n.637+1G>C | |
| XR_938507.1:n.2106+1G>C | |
| XR_938507.2:n.2106+1G>C |