Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23691847G>A , CM000663.2:g.23691847G>A | GRCh38 |
| NC_000001.10:g.24018337G>A , CM000663.1:g.24018337G>A | GRCh37 |
| NC_000001.9:g.23890924G>A | NCBI36 |
| NG_011741.1:g.5044G>A | |
| NG_011741.2:g.5069G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374550.8:c.6+18G>A | ENSP00000363676.4:n.6+18G>A | |
| ENST00000443624.6:n.24+18G>A | ||
| ENST00000467075.2:c.24G>A | ENSP00000493634.1:p.Leu8= | |
| ENST00000643754.2:c.6+18G>A MANE Select | ENSP00000496250.1:n.6+18G>A | |
| ENST00000374550.7:c.6+18G>A | ENSP00000363676.3:n.6+18G>A | |
| ENST00000467075.1:n.13G>A | ||
| NM_000975.3:c.6+18G>A | NP_000966.2:n.6+18G>A | |
| NM_001199802.1:c.6+18G>A | NP_001186731.1:n.6+18G>A | |
| NM_000975.5:c.6+18G>A MANE Select | NP_000966.2:n.6+18G>A |