gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94113068T>C , CM000663.2:g.94113068T>C | GRCh38 |
| NC_000001.10:g.94578624T>C , CM000663.1:g.94578624T>C | GRCh37 |
| NC_000001.9:g.94351212T>C | NCBI36 |
| NG_009073.1:g.13082A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.67-2A>G MANE Select | ENSP00000359245.3:n.67-2A>G | |
| ENST00000649773.1:c.67-2A>G | ENSP00000496882.1:n.67-2A>G | |
| ENST00000370225.3:c.67-2A>G | ENSP00000359245.3:n.67-2A>G | |
| NM_000350.2:c.67-2A>G | NP_000341.2:n.67-2A>G | |
| NM_000350.3:c.67-2A>G MANE Select | NP_000341.2:n.67-2A>G |