Linked Data
ClinVar Variation Id:
1614133
ClinVar RCV Id:
RCV002173736
dbSNP Id:
rs760677948
ExAC:
5:14716834 G / A
gnomAD v2:
5-14716834-G-A
gnomAD v4:
5-14716725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716725G>A , CM000667.2:g.14716725G>A | GRCh38 |
| NC_000005.9:g.14716834G>A , CM000667.1:g.14716834G>A | GRCh37 |
| NC_000005.8:g.14769834G>A | NCBI36 |
| NG_008273.1:g.160054C>T | |
| NG_008273.2:g.160061C>T | |
| NG_051625.1:g.60932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1122C>T MANE Select | ENSP00000284268.6:p.Phe374= | |
| ENST00000284268.6:c.1122C>T | ENSP00000284268.6:p.Phe374= | |
| ENST00000502585.1:n.364C>T | ||
| NM_054027.4:c.1122C>T | NP_473368.1:p.Phe374= | |
| NM_054027.5:c.1122C>T | NP_473368.1:p.Phe374= | |
| XM_017009644.2:c.1038C>T | XP_016865133.1:p.Phe346= | |
| NM_054027.6:c.1122C>T MANE Select | NP_473368.1:p.Phe374= |