Linked Data
ClinVar Variation Id:
502184
dbSNP Id:
rs148265639
ExAC:
5:169535349 G / A
gnomAD v2:
5-169535349-G-A
gnomAD v3:
5-170108345-G-A
gnomAD v4:
5-170108345-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.170108345G>A , CM000667.2:g.170108345G>A | GRCh38 |
| NC_000005.9:g.169535349G>A , CM000667.1:g.169535349G>A | GRCh37 |
| NC_000005.8:g.169467927G>A | NCBI36 |
| NG_012068.1:g.7433G>A | |
| NG_012068.2:g.7433G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306268.8:c.871G>A MANE Select | ENSP00000304286.5:p.Gly291Arg | |
| ENST00000449804.4:c.586G>A | ENSP00000415483.2:p.Gly196Arg | |
| ENST00000306268.6:c.871G>A | ENSP00000304286.5:p.Gly291Arg | |
| ENST00000449804.3:c.586G>A | ENSP00000415483.2:p.Gly196Arg | |
| NM_012188.4:c.871G>A | NP_036320.2:p.Gly291Arg | |
| NM_144769.2:c.586G>A | NP_658982.1:p.Gly196Arg | |
| NM_012188.5:c.871G>A MANE Select | NP_036320.2:p.Gly291Arg | |
| NM_144769.3:c.586G>A | NP_658982.1:p.Gly196Arg | |
| NM_144769.4:c.586G>A | NP_658982.1:p.Gly196Arg |