Linked Data
ClinVar Variation Id:
619082
ClinVar RCV Id:
RCV000757956
RCV001207953
RCV002343609
RCV003333104
RCV003333106
RCV003150341
RCV003333107
RCV003333103
RCV003333105
dbSNP Id:
rs760187215
ExAC:
14:23901068 C / T
gnomAD v2:
14-23901068-C-T
gnomAD v4:
14-23431859-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431859C>T , CM000676.2:g.23431859C>T | GRCh38 |
| NC_000014.8:g.23901068C>T , CM000676.1:g.23901068C>T | GRCh37 |
| NC_000014.7:g.22970908C>T | NCBI36 |
| NG_007884.1:g.8803G>A , LRG_384:g.8803G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.541G>A MANE Select | ENSP00000347507.3:p.Gly181Arg | |
| ENST00000355349.3:c.541G>A | ENSP00000347507.3:p.Gly181Arg | |
| NM_000257.3:c.541G>A | NP_000248.2:p.Gly181Arg | |
| XR_245686.3:n.647G>A | ||
| XM_017021340.1:c.541G>A | XP_016876829.1:p.Gly181Arg | |
| NM_000257.4:c.541G>A MANE Select | NP_000248.2:p.Gly181Arg |