Linked Data
ClinVar Variation Id:
126952
ClinVar RCV Id:
RCV000114808
dbSNP Id:
rs137854855
ExAC:
14:75017811 G / A
gnomAD v2:
14-75017811-G-A
gnomAD v4:
14-74551108-G-A
COSMIC:
COSM3793854
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74551108G>A , CM000676.2:g.74551108G>A | GRCh38 |
| NC_000014.8:g.75017811G>A , CM000676.1:g.75017811G>A | GRCh37 |
| NC_000014.7:g.74087564G>A | NCBI36 |
| NG_021486.1:g.66224C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261978.9:c.1642C>T MANE Select | ENSP00000261978.4:p.Arg548Ter | |
| ENST00000261978.8:c.1642C>T | ENSP00000261978.4:p.Arg548Ter | |
| ENST00000553939.5:c.1642C>T | ENSP00000452110.1:p.Arg548Ter | |
| ENST00000556690.5:c.1642C>T | ENSP00000451477.1:p.Arg548Ter | |
| ENST00000557425.1:n.366C>T | ||
| NM_000428.2:c.1642C>T | NP_000419.1:p.Arg548Ter | |
| XM_011536765.1:c.1642C>T | XP_011535067.1:p.Arg548Ter | |
| XM_011536766.1:c.1183C>T | XP_011535068.1:p.Arg395Ter | |
| XM_011536767.1:c.1159C>T | XP_011535069.1:p.Arg387Ter | |
| XM_011536765.2:c.1642C>T | XP_011535067.1:p.Arg548Ter | |
| NM_000428.3:c.1642C>T MANE Select | NP_000419.1:p.Arg548Ter |