Linked Data
ClinVar Variation Id:
198888
dbSNP Id:
rs377286138
ExAC:
6:52343862 C / T
gnomAD v2:
6-52343862-C-T
gnomAD v3:
6-52479064-C-T
gnomAD v4:
6-52479064-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52479064C>T , CM000668.2:g.52479064C>T | GRCh38 |
| NC_000006.11:g.52343862C>T , CM000668.1:g.52343862C>T | GRCh37 |
| NC_000006.10:g.52451821C>T | NCBI36 |
| NG_016760.1:g.63869C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1306C>T MANE Select | ENSP00000360107.4:p.Arg436Cys | |
| ENST00000480623.6:c.1306C>T | ENSP00000434498.2:p.Arg436Cys | |
| ENST00000635760.1:c.982C>T | ENSP00000489765.1:p.Arg328Cys | |
| ENST00000635812.1:c.*607C>T | ENSP00000490859.1:n.*607C>T | |
| ENST00000635866.1:c.*1175C>T | ENSP00000489866.1:n.*1175C>T | |
| ENST00000635911.1:n.2824C>T | ||
| ENST00000635984.1:c.982C>T | ENSP00000489921.1:p.Arg328Cys | |
| ENST00000635996.1:c.1306C>T | ENSP00000490256.1:p.Arg436Cys | |
| ENST00000636107.1:c.1306C>T | ENSP00000489680.1:p.Arg436Cys | |
| ENST00000636311.1:n.1200C>T | ||
| ENST00000636343.1:c.972C>T | ||
| ENST00000636379.1:c.1018C>T | ENSP00000490622.1:p.Arg340Cys | |
| ENST00000636398.1:c.1006C>T | ENSP00000489654.1:n.1006C>T | |
| ENST00000636489.1:c.1249C>T | ENSP00000489998.1:p.Arg417Cys | |
| ENST00000636616.1:n.895-28C>T | ||
| ENST00000636702.1:c.1276C>T | ENSP00000489623.1:p.Arg426Cys | |
| ENST00000636954.1:c.1249C>T | ENSP00000489966.1:p.Arg417Cys | |
| ENST00000637089.1:c.1306C>T | ENSP00000489854.1:p.Arg436Cys | |
| ENST00000637121.1:n.1108C>T | ||
| ENST00000637263.1:c.1306C>T | ENSP00000489700.1:p.Arg436Cys | |
| ENST00000637340.1:n.3231C>T | ||
| ENST00000637353.1:c.1306C>T | ENSP00000490441.1:p.Arg436Cys | |
| ENST00000637602.1:c.*1007C>T | ENSP00000490074.1:n.*1007C>T | |
| ENST00000637849.1:n.1370C>T | ||
| ENST00000637874.1:c.251C>T | ENSP00000490348.1:n.251C>T | |
| ENST00000637892.1:n.1510C>T | ||
| ENST00000371068.9:c.1306C>T | ENSP00000360107.4:p.Arg436Cys | |
| ENST00000480623.5:c.*1726C>T | ENSP00000434498.1:n.*1726C>T | |
| ENST00000538167.2:c.1249C>T | ENSP00000444521.1:p.Arg417Cys | |
| NM_001172420.1:c.1249C>T | NP_001165891.1:p.Arg417Cys | |
| NM_018100.3:c.1306C>T | NP_060570.2:p.Arg436Cys | |
| NR_033327.1:n.2778C>T | ||
| NM_018100.4:c.1306C>T MANE Select | NP_060570.2:p.Arg436Cys | |
| NM_001172420.2:c.1249C>T | NP_001165891.1:p.Arg417Cys | |
| NR_033327.2:n.2632C>T |