Linked Data
ClinVar Variation Id:
1111861
ClinVar RCV Id:
RCV001438614
dbSNP Id:
rs375921716
ExAC:
17:41061422 T / C
gnomAD v2:
17-41061422-T-C
gnomAD v3:
17-42909405-T-C
gnomAD v4:
17-42909405-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909405T>C , CM000679.2:g.42909405T>C | GRCh38 |
| NC_000017.10:g.41061422T>C , CM000679.1:g.41061422T>C | GRCh37 |
| NC_000017.9:g.38314948T>C | NCBI36 |
| NG_011808.1:g.13608T>C , LRG_147:g.13608T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.549T>C MANE Select | ENSP00000253801.1:p.Ala183= | |
| ENST00000253801.6:c.549T>C | ENSP00000253801.1:p.Ala183= | |
| ENST00000585489.1:c.447-1510T>C | ENSP00000466202.1:n.447-1510T>C | |
| ENST00000592383.5:c.472T>C | ENSP00000465958.1:p.Trp158Arg | |
| NM_000151.3:c.549T>C | NP_000142.2:p.Ala183= | |
| NM_001270397.1:c.472T>C | NP_001257326.1:p.Trp158Arg | |
| NM_000151.4:c.549T>C MANE Select | NP_000142.2:p.Ala183= | |
| NM_001270397.2:c.472T>C | NP_001257326.1:p.Trp158Arg |