Linked Data
ClinVar Variation Id:
261051
dbSNP Id:
rs197367
ExAC:
7:36445856 G / A
gnomAD v2:
7-36445856-G-A
gnomAD v3:
7-36406247-G-A
gnomAD v4:
7-36406247-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.36406247G>A , CM000669.2:g.36406247G>A | GRCh38 |
| NC_000007.13:g.36445856G>A , CM000669.1:g.36445856G>A | GRCh37 |
| NC_000007.12:g.36412381G>A | NCBI36 |
| NG_041770.1:g.21445G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265748.7:c.554G>A MANE Select | ENSP00000265748.2:p.Arg185Lys | |
| ENST00000265748.6:c.554G>A | ENSP00000265748.2:p.Arg185Lys | |
| ENST00000396068.6:c.554G>A | ENSP00000379380.2:p.Arg185Lys | |
| ENST00000424865.1:c.488G>A | ENSP00000404979.1:p.Arg163Lys | |
| ENST00000460598.1:n.141G>A | ||
| NM_001284301.2:c.554G>A | NP_001271230.1:p.Arg185Lys | |
| NM_001284302.2:c.554G>A | NP_001271231.1:p.Arg185Lys | |
| NM_018685.4:c.554G>A | NP_061155.2:p.Arg185Lys | |
| XM_006715746.1:c.554G>A | XP_006715809.1:p.Arg185Lys | |
| XM_006715747.2:c.554G>A | XP_006715810.1:p.Arg185Lys | |
| XM_006715746.2:c.554G>A | XP_006715809.1:p.Arg185Lys | |
| XM_006715747.4:c.554G>A | XP_006715810.1:p.Arg185Lys | |
| XM_017012354.2:c.554G>A | XP_016867843.1:p.Arg185Lys | |
| XM_017012355.2:c.554G>A | XP_016867844.1:p.Arg185Lys | |
| XM_017012356.2:c.554G>A | XP_016867845.1:p.Arg185Lys | |
| NM_018685.5:c.554G>A MANE Select | NP_061155.2:p.Arg185Lys | |
| NM_001284301.3:c.554G>A | NP_001271230.1:p.Arg185Lys | |
| NM_001284302.3:c.554G>A | NP_001271231.1:p.Arg185Lys |