Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6686071G= , CM000681.2:g.6686071G= | GRCh38 |
| NC_000019.9:g.6686082G= , CM000681.1:g.6686082G= | GRCh37 |
| NC_000019.8:g.6637082G= | NCBI36 |
| NG_009557.1:g.39581C= , LRG_27:g.39581C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2158+53C= | ||
| ENST00000695653.1:c.1719+53C= | ENSP00000512084.1:n.1719+53C= | |
| ENST00000695654.1:c.2835+53C= | ENSP00000512085.1:n.2835+53C= | |
| ENST00000245907.11:c.3810+53C= MANE Select | ENSP00000245907.4:n.3810+53C= | |
| ENST00000245907.10:c.3810+53C= | ENSP00000245907.4:n.3810+53C= | |
| ENST00000596238.1:n.253+53C= | ||
| ENST00000601008.1:c.241+675C= | ENSP00000471384.1:n.241+675C= | |
| NM_000064.3:c.3810+53C= | NP_000055.2:n.3810+53C= | |
| NM_000064.4:c.3810+53C= MANE Select | NP_000055.2:n.3810+53C= |