Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23691831T>C , CM000663.2:g.23691831T>C | GRCh38 |
| NC_000001.10:g.24018321T>C , CM000663.1:g.24018321T>C | GRCh37 |
| NC_000001.9:g.23890908T>C | NCBI36 |
| NG_011741.1:g.5028T>C | |
| NG_011741.2:g.5053T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000975.5:c.6+2T>C MANE Select | NP_000966.2:n.6+2T>C |
| ENST00000643754.2:c.6+2T>C MANE Select | ENSP00000496250.1:n.6+2T>C |
| NM_000975.3:c.6+2T>C | NP_000966.2:n.6+2T>C |
| NM_001199802.1:c.6+2T>C | NP_001186731.1:n.6+2T>C |
| ENST00000374550.7:c.6+2T>C | ENSP00000363676.3:n.6+2T>C |
| ENST00000374550.8:c.6+2T>C | ENSP00000363676.4:n.6+2T>C |
| ENST00000443624.6:n.24+2T>C | |
| ENST00000467075.2:c.8T>C | ENSP00000493634.1:p.Val3Ala |