Linked Data
ClinVar Variation Id:
2994529
ClinVar RCV Id:
RCV003856168
dbSNP Id:
rs1180480346
gnomAD v3:
5-14716775-C-T
gnomAD v4:
5-14716775-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716775C>T , CM000667.2:g.14716775C>T | GRCh38 |
| NC_000005.9:g.14716884C>T , CM000667.1:g.14716884C>T | GRCh37 |
| NC_000005.8:g.14769884C>T | NCBI36 |
| NG_008273.1:g.160004G>A | |
| NG_008273.2:g.160011G>A | |
| NG_051625.1:g.60982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1072G>A MANE Select | ENSP00000284268.6:p.Gly358Arg | |
| ENST00000284268.6:c.1072G>A | ENSP00000284268.6:p.Gly358Arg | |
| ENST00000502585.1:n.314G>A | ||
| NM_054027.4:c.1072G>A | NP_473368.1:p.Gly358Arg | |
| NM_054027.5:c.1072G>A | NP_473368.1:p.Gly358Arg | |
| XM_017009644.2:c.988G>A | XP_016865133.1:p.Gly330Arg | |
| NM_054027.6:c.1072G>A MANE Select | NP_473368.1:p.Gly358Arg |