Linked Data
ClinVar Variation Id:
7682
ClinVar RCV Id:
RCV000008121
dbSNP Id:
rs121434479
gnomAD v3:
19-1391144-G-A
gnomAD v4:
19-1391144-G-A
PubMed:
PMID:17275378
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1391144G>A , CM000681.2:g.1391144G>A | GRCh38 |
| NC_000019.9:g.1391143G>A , CM000681.1:g.1391143G>A | GRCh37 |
| NC_000019.8:g.1342143G>A | NCBI36 |
| NG_008283.1:g.12261G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233627.14:c.434G>A MANE Select | ENSP00000233627.9:p.Arg145His | |
| ENST00000233627.13:c.434G>A | ENSP00000233627.9:p.Arg145His | |
| ENST00000313408.11:c.434G>A | ENSP00000364262.5:p.Arg145His | |
| ENST00000414651.3:c.524G>A | ENSP00000406630.2:p.Arg175His | |
| ENST00000436115.6:n.2389G>A | ||
| ENST00000534853.5:c.*228G>A | ENSP00000442822.1:n.*228G>A | |
| ENST00000535382.1:n.686G>A | ||
| ENST00000538523.5:n.490G>A | ||
| ENST00000538662.5:n.529G>A | ||
| ENST00000538929.5:n.524G>A | ||
| ENST00000539480.5:c.434G>A | ENSP00000443273.1:p.Arg145His | |
| ENST00000540530.5:n.425G>A | ||
| ENST00000543289.5:n.992G>A | ||
| ENST00000545446.5:n.725G>A | ||
| ENST00000546172.7:c.*430G>A | ENSP00000467094.1:n.*430G>A | |
| ENST00000546283.5:c.434G>A | ENSP00000440348.1:p.Arg145His | |
| ENST00000618074.4:c.441G>A | ENSP00000477895.1:p.Ala147= | |
| ENST00000620479.4:c.438G>A | ENSP00000480984.1:p.Ala146= | |
| ENST00000622587.4:n.498G>A | ||
| NM_024407.4:c.434G>A | NP_077718.3:p.Arg145His | |
| XM_005259556.3:c.434G>A | XP_005259613.2:p.Arg145His | |
| NM_001363602.1:c.434G>A | NP_001350531.1:p.Arg145His | |
| XM_024451499.1:c.455G>A | XP_024307267.1:p.Arg152His | |
| NM_024407.5:c.434G>A MANE Select | NP_077718.3:p.Arg145His | |
| NM_001363602.2:c.434G>A | NP_001350531.1:p.Arg145His |