gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151179756C>G , CM000685.2:g.151179756C>G | GRCh38 |
| NC_000023.10:g.150348228C>G , CM000685.1:g.150348228C>G | GRCh37 |
| NC_000023.9:g.150098886C>G | NCBI36 |
| NG_016405.1:g.8173C>G | |
| NG_016405.2:g.8173C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218316.4:c.188-15C>G MANE Select | ENSP00000218316.3:n.188-15C>G | |
| ENST00000218316.3:c.188-15C>G | ENSP00000218316.3:n.188-15C>G | |
| ENST00000617907.1:c.188-15C>G | ENSP00000484496.1:n.188-15C>G | |
| NM_004224.3:c.188-15C>G MANE Select | NP_004215.2:n.188-15C>G |