Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23691844C>T , CM000663.2:g.23691844C>T | GRCh38 |
| NC_000001.10:g.24018334C>T , CM000663.1:g.24018334C>T | GRCh37 |
| NC_000001.9:g.23890921C>T | NCBI36 |
| NG_011741.1:g.5041C>T | |
| NG_011741.2:g.5066C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374550.8:c.6+15C>T | ENSP00000363676.4:n.6+15C>T | |
| ENST00000443624.6:n.24+15C>T | ||
| ENST00000467075.2:c.21C>T | ENSP00000493634.1:p.Asp7= | |
| ENST00000643754.2:c.6+15C>T MANE Select | ENSP00000496250.1:n.6+15C>T | |
| ENST00000374550.7:c.6+15C>T | ENSP00000363676.3:n.6+15C>T | |
| ENST00000467075.1:n.10C>T | ||
| NM_000975.3:c.6+15C>T | NP_000966.2:n.6+15C>T | |
| NM_001199802.1:c.6+15C>T | NP_001186731.1:n.6+15C>T | |
| NM_000975.5:c.6+15C>T MANE Select | NP_000966.2:n.6+15C>T |