Linked Data
ClinVar Variation Id:
1923
ClinVar RCV Id:
RCV000002000
dbSNP Id:
rs119103222
ExAC:
5:70898448 T / C
gnomAD v2:
5-70898448-T-C
gnomAD v3:
5-71602621-T-C
gnomAD v4:
5-71602621-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71602621T>C , CM000667.2:g.71602621T>C | GRCh38 |
| NC_000005.9:g.70898448T>C , CM000667.1:g.70898448T>C | GRCh37 |
| NC_000005.8:g.70934204T>C | NCBI36 |
| NG_008882.1:g.20334T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000505435.4:n.569T>C | ||
| ENST00000505787.8:n.2339T>C | ||
| ENST00000509358.7:c.499T>C | ENSP00000420994.3:p.Cys167Arg | |
| ENST00000510895.7:n.622T>C | ||
| ENST00000629193.3:c.499T>C | ENSP00000486535.2:p.Cys167Arg | |
| ENST00000681968.1:c.106T>C | ENSP00000508143.1:p.Cys36Arg | |
| ENST00000682045.1:c.355T>C | ENSP00000507329.1:p.Cys119Arg | |
| ENST00000682214.1:c.106T>C | ENSP00000507336.1:p.Cys36Arg | |
| ENST00000682499.1:n.1320T>C | ||
| ENST00000682541.1:c.499T>C | ENSP00000507673.1:p.Cys167Arg | |
| ENST00000682687.1:c.499T>C | ENSP00000507945.1:p.Cys167Arg | |
| ENST00000682727.1:c.499T>C | ENSP00000507393.1:p.Cys167Arg | |
| ENST00000682876.1:c.499T>C | ENSP00000508389.1:p.Cys167Arg | |
| ENST00000683098.1:c.499T>C | ENSP00000507670.1:p.Cys167Arg | |
| ENST00000683258.1:c.*220T>C | ENSP00000507448.1:n.*220T>C | |
| ENST00000683339.1:c.397T>C | ENSP00000507758.1:p.Cys133Arg | |
| ENST00000683403.1:c.499T>C | ENSP00000507896.1:p.Cys167Arg | |
| ENST00000683429.1:c.106T>C | ENSP00000507697.1:p.Cys36Arg | |
| ENST00000683665.1:c.499T>C | ENSP00000507068.1:p.Cys167Arg | |
| ENST00000683789.1:c.499T>C | ENSP00000507012.1:p.Cys167Arg | |
| ENST00000683882.1:c.499T>C | ENSP00000506735.1:p.Cys167Arg | |
| ENST00000684024.1:c.*170T>C | ENSP00000507175.1:n.*170T>C | |
| ENST00000684254.1:c.*225T>C | ENSP00000508001.1:n.*225T>C | |
| ENST00000340941.11:c.499T>C MANE Select | ENSP00000343657.6:p.Cys167Arg | |
| ENST00000340941.10:c.499T>C | ENSP00000343657.6:p.Cys167Arg | |
| ENST00000505787.7:n.313T>C | ||
| ENST00000507169.5:n.425T>C | ||
| ENST00000509358.6:c.499T>C | ENSP00000420994.2:p.Cys167Arg | |
| ENST00000510895.6:n.113T>C | ||
| ENST00000512218.6:c.499T>C | ENSP00000423202.2:p.Cys167Arg | |
| ENST00000629193.2:c.499T>C | ENSP00000486535.1:p.Cys167Arg | |
| NM_022132.4:c.499T>C | NP_071415.1:p.Cys167Arg | |
| XM_005248567.1:c.499T>C | XP_005248624.1:p.Cys167Arg | |
| XM_011543528.1:c.499T>C | XP_011541830.1:p.Cys167Arg | |
| XM_011543529.1:c.499T>C | XP_011541831.1:p.Cys167Arg | |
| NM_001363147.1:c.499T>C | NP_001350076.1:p.Cys167Arg | |
| XM_011543529.2:c.499T>C | XP_011541831.1:p.Cys167Arg | |
| XM_017009688.1:c.499T>C | XP_016865177.1:p.Cys167Arg | |
| XR_001742172.1:n.539T>C | ||
| NM_022132.5:c.499T>C MANE Select | NP_071415.1:p.Cys167Arg |