Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6685178T>C , CM000681.2:g.6685178T>C | GRCh38 |
| NC_000019.9:g.6685189T>C , CM000681.1:g.6685189T>C | GRCh37 |
| NC_000019.8:g.6636189T>C | NCBI36 |
| NG_009557.1:g.40474A>G , LRG_27:g.40474A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2159-32A>G | ||
| ENST00000695653.1:c.1720-32A>G | ENSP00000512084.1:n.1720-32A>G | |
| ENST00000695654.1:c.2836-32A>G | ENSP00000512085.1:n.2836-32A>G | |
| ENST00000245907.11:c.3811-32A>G MANE Select | ENSP00000245907.4:n.3811-32A>G | |
| ENST00000245907.10:c.3811-32A>G | ENSP00000245907.4:n.3811-32A>G | |
| ENST00000596238.1:n.254-32A>G | ||
| ENST00000601008.1:c.241+1568A>G | ENSP00000471384.1:n.241+1568A>G | |
| NM_000064.3:c.3811-32A>G | NP_000055.2:n.3811-32A>G | |
| NM_000064.4:c.3811-32A>G MANE Select | NP_000055.2:n.3811-32A>G |