Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624028G>C , CM000679.2:g.41624028G>C | GRCh38 |
| NC_000017.10:g.39780280G>C , CM000679.1:g.39780280G>C | GRCh37 |
| NC_000017.9:g.37033806G>C | NCBI36 |
| NG_008625.1:g.5603C>G | |
| NG_009090.2:g.167685C>G , LRG_401:g.167685C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.432+50C>G MANE Select | ENSP00000308452.8:n.432+50C>G | |
| ENST00000311208.12:c.432+50C>G | ENSP00000308452.8:n.432+50C>G | |
| ENST00000463128.5:c.-184+50C>G | ENSP00000468672.1:n.-184+50C>G | |
| ENST00000491673.1:n.498+50C>G | ||
| ENST00000493253.5:n.219+50C>G | ||
| ENST00000540235.5:c.183+50C>G | ENSP00000441751.2:n.183+50C>G | |
| ENST00000577817.3:c.387+50C>G | ENSP00000467418.1:n.387+50C>G | |
| NM_000422.2:c.432+50C>G | NP_000413.1:n.432+50C>G | |
| NM_000422.3:c.432+50C>G MANE Select | NP_000413.1:n.432+50C>G |