gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36231963 (AFR)
Genomes Max Group AF
0.36231963 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68251271C>G , CM000674.2:g.68251271C>G | GRCh38 |
| NC_000012.11:g.68645051C>G , CM000674.1:g.68645051C>G | GRCh37 |
| NC_000012.10:g.66931318C>G | NCBI36 |
| NG_060763.1:g.7334G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328087.6:c.462+242G>C | ENSP00000329384.4:n.462+242G>C | |
| ENST00000538666.6:c.462+242G>C MANE Select | ENSP00000442424.1:n.462+242G>C | |
| ENST00000328087.5:c.462+242G>C | ENSP00000329384.4:n.462+242G>C | |
| ENST00000538666.5:c.462+242G>C | ENSP00000442424.1:n.462+242G>C | |
| NM_020525.4:c.462+242G>C | NP_065386.1:n.462+242G>C | |
| XR_945055.1:n.265-13387C>G | ||
| NM_020525.5:c.462+242G>C MANE Select | NP_065386.1:n.462+242G>C | |
| XR_002957418.1:n.281-13387C>G |