Linked Data
ClinVar Variation Id:
164304
ClinVar RCV Id:
RCV000151250
RCV000326571
RCV000269104
RCV000277463
RCV000365939
RCV000777762
RCV001094089
RCV000627137
RCV001704089
RCV003320107
RCV002444618
dbSNP Id:
rs192722540
ExAC:
14:23891399 G / A
gnomAD v2:
14-23891399-G-A
gnomAD v3:
14-23422190-G-A
gnomAD v4:
14-23422190-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23422190G>A , CM000676.2:g.23422190G>A | GRCh38 |
| NC_000014.8:g.23891399G>A , CM000676.1:g.23891399G>A | GRCh37 |
| NC_000014.7:g.22961239G>A | NCBI36 |
| NG_007884.1:g.18472C>T , LRG_384:g.18472C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3235C>T MANE Select | ENSP00000347507.3:p.Arg1079Trp | |
| ENST00000355349.3:c.3235C>T | ENSP00000347507.3:p.Arg1079Trp | |
| NM_000257.3:c.3235C>T | NP_000248.2:p.Arg1079Trp | |
| XR_245686.3:n.3341C>T | ||
| XM_017021340.1:c.3235C>T | XP_016876829.1:p.Arg1079Trp | |
| NM_000257.4:c.3235C>T MANE Select | NP_000248.2:p.Arg1079Trp |