ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17046533G>C , CM000672.2:g.17046533G>C | GRCh38 |
| NC_000010.10:g.17088532G>C , CM000672.1:g.17088532G>C | GRCh37 |
| NC_000010.9:g.17128538G>C | NCBI36 |
| NG_008967.1:g.88285C>G , LRG_540:g.88285C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.3330-439C>G MANE Select | ENSP00000367064.4:n.3330-439C>G | |
| ENST00000377833.8:c.3330-439C>G | ENSP00000367064.4:n.3330-439C>G | |
| NM_001081.3:c.3330-439C>G , LRG_540t1:c.3330-439C>G | NP_001072.2:n.3330-439C>G | |
| XM_011519708.1:c.3330-439C>G | XP_011518010.1:n.3330-439C>G | |
| XM_011519708.2:c.3330-439C>G | XP_011518010.1:n.3330-439C>G | |
| NM_001081.4:c.3330-439C>G MANE Select | NP_001072.2:n.3330-439C>G |