Linked Data
ClinVar Variation Id:
1185584
dbSNP Id:
rs1213152015
gnomAD v2:
14-31358968-T-C
gnomAD v4:
14-30889762-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30889762T>C , CM000676.2:g.30889762T>C | GRCh38 |
| NC_000014.8:g.31358968T>C , CM000676.1:g.31358968T>C | GRCh37 |
| NC_000014.7:g.30428719T>C | NCBI36 |
| NG_008211.2:g.20228T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216361.9:c.1819T>C | ENSP00000216361.5:p.Cys607Arg | |
| ENST00000396618.9:c.1624T>C MANE Select | ENSP00000379862.3:p.Cys542Arg | |
| ENST00000555117.2:c.1534+3450T>C | ENSP00000493569.1:n.1534+3450T>C | |
| ENST00000643575.1:c.1624T>C | ENSP00000494838.1:p.Cys542Arg | |
| ENST00000643697.1:n.1926T>C | ||
| ENST00000644874.2:c.1624T>C | ENSP00000496360.1:p.Cys542Arg | |
| ENST00000216361.8:c.1624T>C | ENSP00000216361.4:p.Cys542Arg | |
| ENST00000396618.7:c.1624T>C | ENSP00000379862.3:p.Cys542Arg | |
| ENST00000460581.6:c.1288T>C | ENSP00000451713.1:p.Cys430Arg | |
| ENST00000468826.2:c.1275T>C | ||
| ENST00000475087.5:c.1477+3450T>C | ENSP00000451528.1:n.1477+3450T>C | |
| NM_001135058.1:c.1624T>C | NP_001128530.1:p.Cys542Arg | |
| NM_004086.2:c.1624T>C | NP_004077.1:p.Cys542Arg | |
| NR_038356.1:n.47A>G | ||
| XM_011536539.1:c.1624T>C | XP_011534841.1:p.Cys542Arg | |
| NM_001347720.1:c.1819T>C | NP_001334649.1:p.Cys607Arg | |
| XM_017021071.1:c.1819T>C | XP_016876560.1:p.Cys607Arg | |
| XM_024449506.1:c.1681T>C | XP_024305274.1:p.Cys561Arg | |
| NM_004086.3:c.1624T>C MANE Select | NP_004077.1:p.Cys542Arg | |
| NM_001135058.2:c.1624T>C | NP_001128530.1:p.Cys542Arg | |
| NM_001347720.2:c.1819T>C | NP_001334649.1:p.Cys607Arg |