Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40644486A>G , CM000675.2:g.40644486A>G | GRCh38 |
| NC_000013.10:g.41218623A>G , CM000675.1:g.41218623A>G | GRCh37 |
| NC_000013.9:g.40116623A>G | NCBI36 |
| NG_023244.1:g.27112T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379561.6:c.630+21097T>C MANE Select | ENSP00000368880.4:n.630+21097T>C | |
| ENST00000655267.1:n.333+21097T>C | ||
| ENST00000660760.1:n.296-11238T>C | ||
| ENST00000379561.5:c.630+21097T>C | ENSP00000368880.4:n.630+21097T>C | |
| NM_002015.3:c.630+21097T>C | NP_002006.2:n.630+21097T>C | |
| XR_941536.1:n.1226+853T>C | ||
| NM_002015.4:c.630+21097T>C MANE Select | NP_002006.2:n.630+21097T>C |