Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40659794A>G , CM000675.2:g.40659794A>G | GRCh38 |
| NC_000013.10:g.41233931A>G , CM000675.1:g.41233931A>G | GRCh37 |
| NC_000013.9:g.40131931A>G | NCBI36 |
| NG_023244.1:g.11804T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002015.4:c.630+5789T>C MANE Select | NP_002006.2:n.630+5789T>C |
| ENST00000379561.6:c.630+5789T>C MANE Select | ENSP00000368880.4:n.630+5789T>C |
| NM_002015.3:c.630+5789T>C | NP_002006.2:n.630+5789T>C |
| ENST00000379561.5:c.630+5789T>C | ENSP00000368880.4:n.630+5789T>C |
| ENST00000655267.1:n.333+5789T>C | |
| ENST00000660760.1:n.295+5789T>C | |
| XR_941536.1:n.1078+5789T>C |