Linked Data
ClinVar Variation Id:
3100449
ClinVar RCV Id:
RCV004393346
dbSNP Id:
rs780758604
gnomAD v2:
16-4871556-A-G
gnomAD v4:
16-4821555-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4821555A>G , CM000678.2:g.4821555A>G | GRCh38 |
| NC_000016.9:g.4871556A>G , CM000678.1:g.4871556A>G | GRCh37 |
| NC_000016.8:g.4811557A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321919.14:c.724T>C MANE Select | ENSP00000322716.6:p.Cys242Arg | |
| ENST00000321919.13:c.724T>C | ENSP00000322716.6:p.Cys242Arg | |
| ENST00000436648.9:c.481T>C | ENSP00000390276.4:p.Cys161Arg | |
| ENST00000586095.1:n.110T>C | ||
| ENST00000587297.1:c.430T>C | ENSP00000467541.1:p.Cys144Arg | |
| ENST00000588297.5:c.439-102T>C | ENSP00000467751.1:n.439-102T>C | |
| ENST00000588732.5:c.*764T>C | ENSP00000466127.1:n.*764T>C | |
| ENST00000589389.5:c.644-102T>C | ||
| ENST00000591451.5:c.724T>C | ENSP00000468328.1:p.Cys242Arg | |
| NM_001308096.1:c.724T>C | NP_001295025.1:p.Cys242Arg | |
| NM_032569.3:c.724T>C | NP_115958.2:p.Cys242Arg | |
| XM_005255638.3:c.682-102T>C | XP_005255695.3:n.682-102T>C | |
| XM_005255639.3:c.505-102T>C | XP_005255696.2:n.505-102T>C | |
| XM_005255640.3:c.547T>C | XP_005255697.3:p.Cys183Arg | |
| XM_011522716.1:c.709T>C | XP_011521018.1:p.Cys237Arg | |
| XM_011522717.1:c.517T>C | XP_011521019.1:p.Cys173Arg | |
| XM_011522718.1:c.724T>C | XP_011521020.1:p.Cys242Arg | |
| XR_243321.3:n.741T>C | ||
| XR_932954.1:n.946T>C | ||
| NM_001324096.1:c.547T>C | NP_001311025.1:p.Cys183Arg | |
| NM_001324097.1:c.547T>C | NP_001311026.1:p.Cys183Arg | |
| NM_001324098.1:c.748-102T>C | NP_001311027.1:n.748-102T>C | |
| NR_136695.1:n.1046T>C | ||
| NR_136696.1:n.847T>C | ||
| NR_136697.1:n.847T>C | ||
| NR_136698.1:n.805-102T>C | ||
| NR_136699.1:n.805-102T>C | ||
| NR_136700.1:n.805-102T>C | ||
| XM_005255639.5:c.589-102T>C | XP_005255696.3:n.589-102T>C | |
| XM_011522716.3:c.709T>C | XP_011521018.1:p.Cys237Arg | |
| XM_011522717.2:c.517T>C | XP_011521019.1:p.Cys173Arg | |
| XM_017023786.2:c.874T>C | XP_016879275.2:p.Cys292Arg | |
| XM_017023787.2:c.832-102T>C | XP_016879276.2:n.832-102T>C | |
| XM_017023788.2:c.517T>C | XP_016879277.1:p.Cys173Arg | |
| XM_017023789.2:c.475-102T>C | XP_016879278.1:n.475-102T>C | |
| XR_001752008.2:n.1491T>C | ||
| XR_001752009.2:n.1491T>C | ||
| XR_001752010.2:n.1491T>C | ||
| XR_002957846.1:n.1491T>C | ||
| NM_032569.4:c.724T>C MANE Select | NP_115958.2:p.Cys242Arg | |
| NM_001324096.2:c.481T>C | NP_001311025.2:p.Cys161Arg | |
| NM_001324097.2:c.481T>C | NP_001311026.2:p.Cys161Arg | |
| NM_001324098.2:c.682-102T>C | NP_001311027.2:n.682-102T>C | |
| NR_136695.2:n.946T>C | ||
| NM_001308096.2:c.724T>C | NP_001295025.1:p.Cys242Arg | |
| NR_136696.2:n.747T>C | ||
| NR_136697.2:n.747T>C | ||
| NR_136698.2:n.705-102T>C | ||
| NR_136699.2:n.705-102T>C | ||
| NR_136700.2:n.705-102T>C |