Linked Data
ClinVar Variation Id:
5058
dbSNP Id:
rs119484086
ExAC:
17:12896274 C / T
gnomAD v2:
17-12896274-C-T
gnomAD v3:
17-12992957-C-T
gnomAD v4:
17-12992957-C-T
COSMIC:
COSM4064031
PubMed:
PMID:11175785
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992957C>T , CM000679.2:g.12992957C>T | GRCh38 |
| NC_000017.10:g.12896274C>T , CM000679.1:g.12896274C>T | GRCh37 |
| NC_000017.9:g.12836999C>T | NCBI36 |
| NG_015808.1:g.30108G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338034.9:c.2342G>A MANE Select | ENSP00000337445.4:p.Arg781His | |
| ENST00000338034.8:c.2342G>A | ENSP00000337445.4:p.Arg781His | |
| ENST00000395962.6:c.2285G>A | ENSP00000379291.1:p.Arg762His | |
| ENST00000426905.7:c.2222G>A | ENSP00000405223.3:p.Arg741His | |
| ENST00000465825.5:n.2229G>A | ||
| ENST00000480891.5:n.2171G>A | ||
| ENST00000484122.5:n.3172G>A | ||
| ENST00000487229.6:n.1888G>A | ||
| ENST00000584650.5:c.1741G>A | ||
| NM_001165962.1:c.2222G>A | NP_001159434.1:p.Arg741His | |
| NM_018127.6:c.2342G>A | NP_060597.4:p.Arg781His | |
| NM_173717.1:c.2339G>A | NP_776065.1:p.Arg780His | |
| XM_024450850.1:c.2501G>A | XP_024306618.1:p.Arg834His | |
| XM_024450851.1:c.2423G>A | XP_024306619.1:p.Arg808His | |
| XM_024450852.1:c.2420G>A | XP_024306620.1:p.Arg807His | |
| XM_024450853.1:c.2417G>A | XP_024306621.1:p.Arg806His | |
| XM_024450854.1:c.2381G>A | XP_024306622.1:p.Arg794His | |
| XM_024450855.1:c.2300G>A | XP_024306623.1:p.Arg767His | |
| XM_024450856.1:c.2219G>A | XP_024306624.1:p.Arg740His | |
| XM_024450857.1:c.2219G>A | XP_024306625.1:p.Arg740His | |
| XM_024450858.1:c.2138G>A | XP_024306626.1:p.Arg713His | |
| XM_024450859.1:c.2135G>A | XP_024306627.1:p.Arg712His | |
| XM_024450860.1:c.2060G>A | XP_024306628.1:p.Arg687His | |
| XM_024450861.1:c.2060G>A | XP_024306629.1:p.Arg687His | |
| XM_024450862.1:c.2057G>A | XP_024306630.1:p.Arg686His | |
| NM_018127.7:c.2342G>A MANE Select | NP_060597.4:p.Arg781His | |
| NM_001165962.2:c.2222G>A | NP_001159434.1:p.Arg741His | |
| NM_173717.2:c.2339G>A | NP_776065.1:p.Arg780His |