Linked Data
ClinVar Variation Id:
268207
ClinVar RCV Id:
RCV000258922
RCV000963427
RCV001252621
RCV002274004
RCV002518797
RCV003987484
RCV004535244
dbSNP Id:
rs200473652
ExAC:
2:210683829 G / C
gnomAD v2:
2-210683829-G-C
gnomAD v3:
2-209819105-G-C
gnomAD v4:
2-209819105-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.209819105G>C , CM000664.2:g.209819105G>C | GRCh38 |
| NC_000002.11:g.210683829G>C , CM000664.1:g.210683829G>C | GRCh37 |
| NC_000002.10:g.210392074G>C | NCBI36 |
| NG_051361.1:g.52181G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673920.1:c.1806G>C MANE Select | ENSP00000501211.1:p.Gln602His | |
| ENST00000673951.1:c.1806G>C | ENSP00000501012.1:p.Gln602His | |
| ENST00000272845.10:c.1806G>C | ENSP00000272845.5:p.Gln602His | |
| ENST00000439458.5:c.1806G>C | ENSP00000391088.1:p.Gln602His | |
| NM_032504.1:c.1806G>C | NP_115893.1:p.Gln602His | |
| NM_182587.3:c.1806G>C | NP_872393.3:p.Gln602His | |
| XM_005246476.1:c.1806G>C | XP_005246533.1:p.Gln602His | |
| XM_011511004.1:c.1806G>C | XP_011509306.1:p.Gln602His | |
| XM_011511005.1:c.1806G>C | XP_011509307.1:p.Gln602His | |
| XM_011511006.1:c.1806G>C | XP_011509308.1:p.Gln602His | |
| XM_011511007.1:c.1806G>C | XP_011509309.1:p.Gln602His | |
| XM_011511008.1:c.1806G>C | XP_011509310.1:p.Gln602His | |
| XM_011511009.1:c.1806G>C | XP_011509311.1:p.Gln602His | |
| XM_011511010.1:c.1806G>C | XP_011509312.1:p.Gln602His | |
| XM_011511011.1:c.1806G>C | XP_011509313.1:p.Gln602His | |
| XM_011511012.1:c.1806G>C | XP_011509314.1:p.Gln602His | |
| XM_011511010.2:c.1806G>C | XP_011509312.1:p.Gln602His | |
| XM_017003884.1:c.1806G>C | XP_016859373.1:p.Gln602His | |
| XM_017003885.1:c.1806G>C | XP_016859374.1:p.Gln602His | |
| XM_017003886.1:c.1806G>C | XP_016859375.1:p.Gln602His | |
| XM_017003887.1:c.1806G>C | XP_016859376.1:p.Gln602His | |
| XM_017003888.1:c.1806G>C | XP_016859377.1:p.Gln602His | |
| XM_017003889.1:c.1806G>C | XP_016859378.1:p.Gln602His | |
| XM_017003890.1:c.1806G>C | XP_016859379.1:p.Gln602His | |
| XM_017003891.1:c.1452G>C | XP_016859380.1:p.Gln484His | |
| XM_017003893.1:c.1806G>C | XP_016859382.1:p.Gln602His | |
| XR_002959283.1:n.1886G>C | ||
| NM_001371986.1:c.1806G>C MANE Select | NP_001358915.1:p.Gln602His | |
| NM_182587.4:c.1806G>C | NP_872393.3:p.Gln602His | |
| NM_032504.2:c.1806G>C | NP_115893.1:p.Gln602His |