gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002263 (AMR)
Genomes Max Group AF
0.00002263 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40017649C>G , CM000679.2:g.40017649C>G | GRCh38 |
| NC_000017.10:g.38173902C>G , CM000679.1:g.38173902C>G | GRCh37 |
| NC_000017.9:g.35427428C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394149.8:c.*690C>G MANE Select | ENSP00000377705.4:n.*690C>G | |
| ENST00000225474.6:c.*690C>G | ENSP00000225474.2:n.*690C>G | |
| ENST00000331769.6:c.*690C>G | ENSP00000327766.2:n.*690C>G | |
| ENST00000394149.7:c.*690C>G | ENSP00000377705.3:n.*690C>G | |
| ENST00000579852.1:c.*976C>G | ENSP00000464157.1:n.*976C>G | |
| NM_000759.3:c.*690C>G | NP_000750.1:n.*690C>G | |
| NM_001178147.1:c.*690C>G | NP_001171618.1:n.*690C>G | |
| NM_172219.2:c.*690C>G | NP_757373.1:n.*690C>G | |
| NM_172220.2:c.*690C>G | NP_757374.2:n.*690C>G | |
| NR_033662.1:n.1595C>G | ||
| NM_000759.4:c.*690C>G | NP_000750.1:n.*690C>G | |
| NM_001178147.2:c.*690C>G | NP_001171618.1:n.*690C>G | |
| NM_172219.3:c.*690C>G MANE Select | NP_757373.1:n.*690C>G | |
| NM_172220.3:c.*690C>G | NP_757374.2:n.*690C>G | |
| NR_033662.2:n.1516C>G | ||
| NR_168489.1:n.1408C>G | ||
| NR_168490.1:n.1417C>G | ||
| NR_168491.1:n.1525C>G |