Linked Data
ClinVar Variation Id:
382267
dbSNP Id:
rs148228793
ExAC:
5:14716914 C / T
gnomAD v2:
5-14716914-C-T
gnomAD v3:
5-14716805-C-T
gnomAD v4:
5-14716805-C-T
COSMIC:
COSM98293
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716805C>T , CM000667.2:g.14716805C>T | GRCh38 |
| NC_000005.9:g.14716914C>T , CM000667.1:g.14716914C>T | GRCh37 |
| NC_000005.8:g.14769914C>T | NCBI36 |
| NG_008273.1:g.159974G>A | |
| NG_008273.2:g.159981G>A | |
| NG_051625.1:g.61012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1042G>A MANE Select | ENSP00000284268.6:p.Val348Met | |
| ENST00000284268.6:c.1042G>A | ENSP00000284268.6:p.Val348Met | |
| ENST00000502585.1:n.284G>A | ||
| NM_054027.4:c.1042G>A | NP_473368.1:p.Val348Met | |
| NM_054027.5:c.1042G>A | NP_473368.1:p.Val348Met | |
| XM_017009644.2:c.958G>A | XP_016865133.1:p.Val320Met | |
| NM_054027.6:c.1042G>A MANE Select | NP_473368.1:p.Val348Met |