Linked Data
ClinVar Variation Id:
14845
dbSNP Id:
rs121913132
ExAC:
2:26486320 G / A
gnomAD v2:
2-26486320-G-A
gnomAD v3:
2-26263452-G-A
gnomAD v4:
2-26263452-G-A
PubMed:
PMID:8651282
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26263452G>A , CM000664.2:g.26263452G>A | GRCh38 |
| NC_000002.11:g.26486320G>A , CM000664.1:g.26486320G>A | GRCh37 |
| NC_000002.10:g.26339824G>A | NCBI36 |
| NG_007294.1:g.23500G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317799.10:c.182G>A MANE Select | ENSP00000325136.5:p.Arg61His | |
| ENST00000317799.9:c.182G>A | ENSP00000325136.5:p.Arg61His | |
| ENST00000405867.7:c.182G>A | ENSP00000385411.3:p.Arg61His | |
| ENST00000412805.5:c.182G>A | ENSP00000413103.1:p.Arg61His | |
| ENST00000425035.5:c.182G>A | ENSP00000404633.1:p.Arg61His | |
| ENST00000448743.5:c.182G>A | ENSP00000415300.1:p.Arg61His | |
| ENST00000494615.1:n.1129G>A | ||
| ENST00000537713.5:c.182G>A | ENSP00000444295.1:p.Arg61His | |
| ENST00000545822.2:c.116G>A | ENSP00000442665.1:p.Arg39His | |
| NM_000183.2:c.182G>A | NP_000174.1:p.Arg61His | |
| NM_001281512.1:c.182G>A | NP_001268441.1:p.Arg61His | |
| NM_001281513.1:c.116G>A | NP_001268442.1:p.Arg39His | |
| XM_011532803.1:c.182G>A | XP_011531105.1:p.Arg61His | |
| XM_011532804.1:c.116G>A | XP_011531106.1:p.Arg39His | |
| XM_024452830.1:c.152G>A | XP_024308598.1:p.Arg51His | |
| XM_024452831.1:c.116G>A | XP_024308599.1:p.Arg39His | |
| NM_000183.3:c.182G>A MANE Select | NP_000174.1:p.Arg61His | |
| NM_001281513.2:c.116G>A | NP_001268442.1:p.Arg39His | |
| NM_001281512.2:c.182G>A | NP_001268441.1:p.Arg61His |