Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40648973C>T , CM000675.2:g.40648973C>T | GRCh38 |
| NC_000013.10:g.41223110C>T , CM000675.1:g.41223110C>T | GRCh37 |
| NC_000013.9:g.40121110C>T | NCBI36 |
| NG_023244.1:g.22625G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002015.4:c.630+16610G>A MANE Select | NP_002006.2:n.630+16610G>A |
| ENST00000379561.6:c.630+16610G>A MANE Select | ENSP00000368880.4:n.630+16610G>A |
| NM_002015.3:c.630+16610G>A | NP_002006.2:n.630+16610G>A |
| ENST00000379561.5:c.630+16610G>A | ENSP00000368880.4:n.630+16610G>A |
| ENST00000655267.1:n.333+16610G>A | |
| ENST00000660760.1:n.296-15725G>A | |
| XR_941536.1:n.1079-3487G>A |