Linked Data
ClinVar Variation Id:
134432
dbSNP Id:
rs190786280
ExAC:
17:17122346 C / T
gnomAD v2:
17-17122346-C-T
gnomAD v3:
17-17219032-C-T
gnomAD v4:
17-17219032-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17219032C>T , CM000679.2:g.17219032C>T | GRCh38 |
| NC_000017.10:g.17122346C>T , CM000679.1:g.17122346C>T | GRCh37 |
| NC_000017.9:g.17063071C>T | NCBI36 |
| NG_008001.2:g.23157G>A , LRG_325:g.23157G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285071.9:c.1049G>A MANE Select | ENSP00000285071.4:p.Arg350Gln | |
| ENST00000285071.8:c.1049G>A | ENSP00000285071.4:p.Arg350Gln | |
| ENST00000427497.3:c.171G>A | ENSP00000394249.3:p.Pro57= | |
| ENST00000577591.1:n.72G>A | ||
| NM_144997.5:c.1049G>A , LRG_325t1:c.1049G>A | NP_659434.2:p.Arg350Gln | |
| XM_011523714.1:c.1103G>A | XP_011522016.1:p.Arg368Gln | |
| XM_011523715.1:c.1103G>A | XP_011522017.1:p.Arg368Gln | |
| XM_011523716.1:c.1103G>A | XP_011522018.1:p.Arg368Gln | |
| XM_011523717.1:c.1103G>A | XP_011522019.1:p.Arg368Gln | |
| XM_011523718.1:c.1103G>A | XP_011522020.1:p.Arg368Gln | |
| XM_011523719.1:c.1103G>A | XP_011522021.1:p.Arg368Gln | |
| XM_011523720.1:c.827G>A | XP_011522022.1:p.Arg276Gln | |
| XM_011523721.1:c.1103G>A | XP_011522023.1:p.Arg368Gln | |
| XR_934007.1:n.2443G>A | ||
| NM_001353229.1:c.1103G>A | NP_001340158.1:p.Arg368Gln | |
| NM_001353230.1:c.1049G>A | NP_001340159.1:p.Arg350Gln | |
| NM_001353231.1:c.1049G>A | NP_001340160.1:p.Arg350Gln | |
| NM_144997.6:c.1049G>A | NP_659434.2:p.Arg350Gln | |
| XM_011523714.3:c.1103G>A | XP_011522016.1:p.Arg368Gln | |
| XM_011523718.3:c.1103G>A | XP_011522020.1:p.Arg368Gln | |
| XM_011523719.3:c.1103G>A | XP_011522021.1:p.Arg368Gln | |
| XM_011523721.3:c.1103G>A | XP_011522023.1:p.Arg368Gln | |
| XM_017024305.2:c.1103G>A | XP_016879794.1:p.Arg368Gln | |
| XM_017024308.1:c.1049G>A | XP_016879797.1:p.Arg350Gln | |
| XM_017024309.2:c.827G>A | XP_016879798.1:p.Arg276Gln | |
| XM_024450635.1:c.1103G>A | XP_024306403.1:p.Arg368Gln | |
| XR_001752445.2:n.1607G>A | ||
| NM_144997.7:c.1049G>A MANE Select | NP_659434.2:p.Arg350Gln | |
| NM_001353229.2:c.1103G>A | NP_001340158.1:p.Arg368Gln | |
| NM_001353230.2:c.1049G>A | NP_001340159.1:p.Arg350Gln | |
| NM_001353231.2:c.1049G>A | NP_001340160.1:p.Arg350Gln |