Linked Data
ClinVar Variation Id:
324376
dbSNP Id:
rs373568007
ExAC:
17:61559935 T / C
gnomAD v2:
17-61559935-T-C
gnomAD v3:
17-63482574-T-C
gnomAD v4:
17-63482574-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63482574T>C , CM000679.2:g.63482574T>C | GRCh38 |
| NC_000017.10:g.61559935T>C , CM000679.1:g.61559935T>C | GRCh37 |
| NC_000017.9:g.58913667T>C | NCBI36 |
| NG_011648.1:g.10502T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.1227T>C MANE Select | ENSP00000290866.4:p.Arg409= | |
| ENST00000290866.9:c.1227T>C | ENSP00000290866.4:p.Arg409= | |
| ENST00000428043.5:c.1227T>C | ENSP00000397593.2:p.Arg409= | |
| ENST00000582678.5:c.*626T>C | ENSP00000462995.1:n.*626T>C | |
| ENST00000584529.5:n.1261T>C | ||
| NM_000789.3:c.1227T>C | NP_000780.1:p.Arg409= | |
| XM_005257110.1:c.678T>C | XP_005257167.1:p.Arg226= | |
| NM_000789.4:c.1227T>C MANE Select | NP_000780.1:p.Arg409= | |
| NM_001382700.1:c.660T>C | NP_001369629.1:p.Arg220= | |
| NM_001382701.1:c.375T>C | NP_001369630.1:p.Arg125= |