Linked Data
ClinVar Variation Id:
48132
dbSNP Id:
rs141688757
ExAC:
17:72916430 G / C
gnomAD v2:
17-72916430-G-C
gnomAD v3:
17-74920335-G-C
gnomAD v4:
17-74920335-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920335G>C , CM000679.2:g.74920335G>C | GRCh38 |
| NC_000017.10:g.72916430G>C , CM000679.1:g.72916430G>C | GRCh37 |
| NC_000017.9:g.70428025G>C | NCBI36 |
| NG_007882.1:g.7922C>G | |
| NG_033062.1:g.1061G>C | |
| NG_007882.2:g.7929C>G | |
| NG_033062.2:g.1061G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.501C>G MANE Select | ENSP00000480279.1:p.Arg167= | |
| ENST00000579243.1:c.*100C>G | ENSP00000462568.1:n.*100C>G | |
| ENST00000614341.4:c.501C>G | ENSP00000480279.1:p.Arg167= | |
| NM_001282489.2:c.192C>G | NP_001269418.1:p.Arg64= | |
| NM_173477.4:c.501C>G | NP_775748.2:p.Arg167= | |
| XM_011524296.1:c.192C>G | XP_011522598.1:p.Arg64= | |
| XM_011524296.2:c.192C>G | XP_011522598.1:p.Arg64= | |
| NM_173477.5:c.501C>G MANE Select | NP_775748.2:p.Arg167= | |
| NM_001282489.3:c.192C>G | NP_001269418.1:p.Arg64= |