Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7943502C>T , CM000681.2:g.7943502C>T | GRCh38 |
| NC_000019.9:g.8008387C>T , CM000681.1:g.8008387C>T | GRCh37 |
| NC_000019.8:g.7914387C>T | NCBI36 |
| NG_051180.1:g.5322G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.45+105G>A MANE Select | ENSP00000270538.2:n.45+105G>A | |
| ENST00000270538.7:c.45+105G>A | ENSP00000270538.2:n.45+105G>A | |
| ENST00000595831.5:c.29+105G>A | ||
| ENST00000595876.5:c.45+105G>A | ENSP00000471596.1:n.45+105G>A | |
| ENST00000597926.1:c.45+105G>A | ENSP00000469389.1:n.45+105G>A | |
| ENST00000600000.1:n.60+105G>A | ||
| ENST00000600748.5:n.30+105G>A | ||
| NM_006351.3:c.45+105G>A | NP_006342.2:n.45+105G>A | |
| NM_006351.4:c.45+105G>A MANE Select | NP_006342.2:n.45+105G>A |