gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42261582G>C , CM000665.2:g.42261582G>C | GRCh38 |
| NC_000003.11:g.42303074G>C , CM000665.1:g.42303074G>C | GRCh37 |
| NC_000003.10:g.42278078G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396169.7:c.214+1835C>G MANE Select | ENSP00000379472.2:n.214+1835C>G | |
| ENST00000334681.9:c.214+1835C>G | ENSP00000335657.5:n.214+1835C>G | |
| ENST00000396169.6:c.214+1835C>G | ENSP00000379472.2:n.214+1835C>G | |
| ENST00000434608.1:c.214+1835C>G | ENSP00000409124.1:n.214+1835C>G | |
| NM_000729.4:c.214+1835C>G | NP_000720.1:n.214+1835C>G | |
| NM_001174138.1:c.214+1835C>G | NP_001167609.1:n.214+1835C>G | |
| NM_000729.5:c.214+1835C>G | NP_000720.1:n.214+1835C>G | |
| NM_001174138.2:c.214+1835C>G | NP_001167609.1:n.214+1835C>G | |
| NM_000729.6:c.214+1835C>G MANE Select | NP_000720.1:n.214+1835C>G | |
| NM_001174138.3:c.214+1835C>G | NP_001167609.1:n.214+1835C>G |