Linked Data
dbSNP Id:
rs752286696
ExAC:
5:149361012 G / A
gnomAD v2:
5-149361012-G-A
gnomAD v4:
5-149981449-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981449G>A , CM000667.2:g.149981449G>A | GRCh38 |
| NC_000005.9:g.149361012G>A , CM000667.1:g.149361012G>A | GRCh37 |
| NC_000005.8:g.149341205G>A | NCBI36 |
| NG_007147.2:g.22567G>A , LRG_684:g.22567G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1856G>A MANE Select | ENSP00000286298.4:p.Arg619Lys | |
| ENST00000286298.4:c.1856G>A | ENSP00000286298.4:p.Arg619Lys | |
| ENST00000503336.1:c.372+3098G>A | ENSP00000426053.1:n.372+3098G>A | |
| NM_000112.3:c.1856G>A , LRG_684t1:c.1856G>A | NP_000103.2:p.Arg619Lys | |
| XM_017009191.2:c.1856G>A | XP_016864680.1:p.Arg619Lys | |
| NM_000112.4:c.1856G>A MANE Select | NP_000103.2:p.Arg619Lys |