Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7943528G>A , CM000681.2:g.7943528G>A | GRCh38 |
| NC_000019.9:g.8008413G>A , CM000681.1:g.8008413G>A | GRCh37 |
| NC_000019.8:g.7914413G>A | NCBI36 |
| NG_051180.1:g.5296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.45+79C>T MANE Select | ENSP00000270538.2:n.45+79C>T | |
| ENST00000270538.7:c.45+79C>T | ENSP00000270538.2:n.45+79C>T | |
| ENST00000595831.5:c.29+79C>T | ||
| ENST00000595876.5:c.45+79C>T | ENSP00000471596.1:n.45+79C>T | |
| ENST00000597926.1:c.45+79C>T | ENSP00000469389.1:n.45+79C>T | |
| ENST00000600000.1:n.60+79C>T | ||
| ENST00000600748.5:n.30+79C>T | ||
| NM_006351.3:c.45+79C>T | NP_006342.2:n.45+79C>T | |
| NM_006351.4:c.45+79C>T MANE Select | NP_006342.2:n.45+79C>T |