Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23691837G>C , CM000663.2:g.23691837G>C | GRCh38 |
| NC_000001.10:g.24018327G>C , CM000663.1:g.24018327G>C | GRCh37 |
| NC_000001.9:g.23890914G>C | NCBI36 |
| NG_011741.1:g.5034G>C | |
| NG_011741.2:g.5059G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374550.8:c.6+8G>C | ENSP00000363676.4:n.6+8G>C | |
| ENST00000443624.6:n.24+8G>C | ||
| ENST00000467075.2:c.14G>C | ENSP00000493634.1:p.Ser5Thr | |
| ENST00000643754.2:c.6+8G>C MANE Select | ENSP00000496250.1:n.6+8G>C | |
| ENST00000374550.7:c.6+8G>C | ENSP00000363676.3:n.6+8G>C | |
| ENST00000467075.1:n.3G>C | ||
| NM_000975.3:c.6+8G>C | NP_000966.2:n.6+8G>C | |
| NM_001199802.1:c.6+8G>C | NP_001186731.1:n.6+8G>C | |
| NM_000975.5:c.6+8G>C MANE Select | NP_000966.2:n.6+8G>C |