Linked Data
ClinVar Variation Id:
525292
ClinVar RCV Id:
RCV000629345
dbSNP Id:
rs200648006
ExAC:
7:21603968 C / T
gnomAD v2:
7-21603968-C-T
gnomAD v3:
7-21564350-C-T
gnomAD v4:
7-21564350-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21564350C>T , CM000669.2:g.21564350C>T | GRCh38 |
| NC_000007.13:g.21603968C>T , CM000669.1:g.21603968C>T | GRCh37 |
| NC_000007.12:g.21570493C>T | NCBI36 |
| NG_012886.2:g.26136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.1147C>T MANE Select | ENSP00000475939.1:p.Arg383Trp | |
| ENST00000328843.10:c.1147C>T | ENSP00000330671.7:p.Arg383Trp | |
| ENST00000409508.7:c.1147C>T | ENSP00000475939.1:p.Arg383Trp | |
| ENST00000496218.1:n.80+3180C>T | ||
| ENST00000620169.4:c.1147C>T | ENSP00000481693.1:p.Arg383Trp | |
| NM_001277115.1:c.1147C>T | NP_001264044.1:p.Arg383Trp | |
| XR_927090.1:n.564-4110G>A | ||
| XR_001745114.1:n.2794-4110G>A | ||
| NM_001277115.2:c.1147C>T MANE Select | NP_001264044.1:p.Arg383Trp |