Linked Data
ClinVar Variation Id:
434952
dbSNP Id:
rs375421208
ExAC:
2:25468185 A / G
gnomAD v2:
2-25468185-A-G
gnomAD v3:
2-25245316-A-G
gnomAD v4:
2-25245316-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25245316A>G , CM000664.2:g.25245316A>G | GRCh38 |
| NC_000002.11:g.25468185A>G , CM000664.1:g.25468185A>G | GRCh37 |
| NC_000002.10:g.25321689A>G | NCBI36 |
| NG_029465.2:g.102275T>C , LRG_459:g.102275T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683393.1:c.637T>C | ENSP00000508654.1:n.637T>C | |
| ENST00000683760.1:c.822T>C | ENSP00000507765.1:p.Cys274= | |
| ENST00000321117.10:c.1491T>C MANE Select | ENSP00000324375.5:p.Cys497= | |
| ENST00000264709.7:c.1491T>C | ENSP00000264709.3:p.Cys497= | |
| ENST00000321117.9:c.1491T>C | ENSP00000324375.5:p.Cys497= | |
| ENST00000380746.8:c.924T>C | ENSP00000370122.4:p.Cys308= | |
| ENST00000380756.7:c.1491T>C | ENSP00000370132.3:p.Cys497= | |
| ENST00000402667.1:c.822T>C | ENSP00000384237.1:p.Cys274= | |
| ENST00000474807.5:n.786T>C | ||
| NM_022552.4:c.1491T>C , LRG_459t1:c.1491T>C | NP_072046.2:p.Cys497= | |
| NM_153759.3:c.924T>C , LRG_459t2:c.924T>C | NP_715640.2:p.Cys308= | |
| NM_175629.2:c.1491T>C , LRG_459t4:c.1491T>C | NP_783328.1:p.Cys497= | |
| XM_005264175.3:c.1491T>C | XP_005264232.1:p.Cys497= | |
| XM_005264177.3:c.822T>C | XP_005264234.1:p.Cys274= | |
| XM_006711957.2:c.1491T>C | XP_006712020.1:p.Cys497= | |
| XM_006711958.2:c.1047T>C | XP_006712021.1:p.Cys349= | |
| XM_011532662.1:c.1344T>C | XP_011530964.1:p.Cys448= | |
| XM_011532663.1:c.1326T>C | XP_011530965.1:p.Cys442= | |
| XM_011532664.1:c.1491T>C | XP_011530966.1:p.Cys497= | |
| XM_011532665.1:c.1035T>C | XP_011530967.1:p.Cys345= | |
| XM_011532666.1:c.963T>C | XP_011530968.1:p.Cys321= | |
| XM_011532667.1:c.822T>C | XP_011530969.1:p.Cys274= | |
| XM_011532668.1:c.1491T>C | XP_011530970.1:p.Cys497= | |
| NM_001320893.1:c.1035T>C | NP_001307822.1:p.Cys345= | |
| NR_135490.1:n.1829T>C | ||
| XM_005264175.5:c.1491T>C | XP_005264232.1:p.Cys497= | |
| XM_005264177.4:c.822T>C | XP_005264234.1:p.Cys274= | |
| XM_011532662.2:c.1344T>C | XP_011530964.1:p.Cys448= | |
| XM_011532663.2:c.1326T>C | XP_011530965.1:p.Cys442= | |
| XM_011532664.2:c.1491T>C | XP_011530966.1:p.Cys497= | |
| XM_011532666.2:c.963T>C | XP_011530968.1:p.Cys321= | |
| XM_011532667.3:c.822T>C | XP_011530969.1:p.Cys274= | |
| XM_017003526.1:c.1491T>C | XP_016859015.1:p.Cys497= | |
| XM_017003527.1:c.822T>C | XP_016859016.1:p.Cys274= | |
| XR_001738657.1:n.1768T>C | ||
| NM_001375819.1:c.822T>C | NP_001362748.1:p.Cys274= | |
| NR_135490.2:n.1722T>C | ||
| NM_022552.5:c.1491T>C MANE Select | NP_072046.2:p.Cys497= |