gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215934576T>C , CM000663.2:g.215934576T>C | GRCh38 |
| NC_000001.10:g.216107918T>C , CM000663.1:g.216107918T>C | GRCh37 |
| NC_000001.9:g.214174541T>C | NCBI36 |
| NG_009497.1:g.493821A>G | |
| NG_009497.2:g.493873A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.7300+40A>G MANE Select | ENSP00000305941.3:n.7300+40A>G | |
| ENST00000674083.1:c.7300+40A>G | ENSP00000501296.1:n.7300+40A>G | |
| ENST00000307340.7:c.7300+40A>G | ENSP00000305941.3:n.7300+40A>G | |
| NM_206933.2:c.7300+40A>G | NP_996816.2:n.7300+40A>G | |
| NM_206933.3:c.7300+40A>G | NP_996816.2:n.7300+40A>G | |
| NM_206933.4:c.7300+40A>G MANE Select | NP_996816.3:n.7300+40A>G |