Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6686037G>T , CM000681.2:g.6686037G>T | GRCh38 |
| NC_000019.9:g.6686048G>T , CM000681.1:g.6686048G>T | GRCh37 |
| NC_000019.8:g.6637048G>T | NCBI36 |
| NG_009557.1:g.39615C>A , LRG_27:g.39615C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2158+87C>A | ||
| ENST00000695653.1:c.1719+87C>A | ENSP00000512084.1:n.1719+87C>A | |
| ENST00000695654.1:c.2835+87C>A | ENSP00000512085.1:n.2835+87C>A | |
| ENST00000245907.11:c.3810+87C>A MANE Select | ENSP00000245907.4:n.3810+87C>A | |
| ENST00000245907.10:c.3810+87C>A | ENSP00000245907.4:n.3810+87C>A | |
| ENST00000596238.1:n.253+87C>A | ||
| ENST00000601008.1:c.241+709C>A | ENSP00000471384.1:n.241+709C>A | |
| NM_000064.3:c.3810+87C>A | NP_000055.2:n.3810+87C>A | |
| NM_000064.4:c.3810+87C>A MANE Select | NP_000055.2:n.3810+87C>A |