MyVariant.info:
GRCh38
chr17:g.43952807G>C
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002434 (AMR)
Exomes Max Group AF
0.00002004 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43952807G>C , CM000679.2:g.43952807G>C | GRCh38 |
| NC_000017.10:g.42030175G>C , CM000679.1:g.42030175G>C | GRCh37 |
| NC_000017.9:g.39385701G>C | NCBI36 |
| NG_023338.1:g.56663C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592796.2:c.*298C>G | ENSP00000467310.1:n.*298C>G | |
| ENST00000692052.1:c.*149C>G MANE Select | ENSP00000509262.1:n.*149C>G | |
| ENST00000360085.6:c.*149C>G | ENSP00000353198.1:n.*149C>G | |
| NM_004160.4:c.*149C>G | NP_004151.3:n.*149C>G | |
| XM_011525035.1:c.*149C>G | XP_011523337.1:n.*149C>G | |
| NM_004160.5:c.*149C>G | NP_004151.3:n.*149C>G | |
| NM_001394028.1:c.*149C>G MANE Select | NP_001380957.1:n.*149C>G | |
| NM_001394029.1:c.*298C>G | NP_001380958.1:n.*298C>G | |
| NM_004160.6:c.*149C>G | NP_004151.4:n.*149C>G |