Linked Data
ClinVar Variation Id:
242931
ClinVar RCV Id:
RCV000234929
dbSNP Id:
rs143240087
ExAC:
11:93912872 G / A
gnomAD v2:
11-93912872-G-A
gnomAD v3:
11-94179706-G-A
gnomAD v4:
11-94179706-G-A
COSMIC:
COSM241041
PubMed:
PMID:27129271
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94179706G>A , CM000673.2:g.94179706G>A | GRCh38 |
| NC_000011.9:g.93912872G>A , CM000673.1:g.93912872G>A | GRCh37 |
| NC_000011.8:g.93552520G>A | NCBI36 |
| NG_027936.1:g.55779G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227638.8:c.650G>A MANE Select | ENSP00000227638.3:p.Arg217His | |
| ENST00000227638.7:c.650G>A | ENSP00000227638.3:p.Arg217His | |
| ENST00000436171.2:c.650G>A | ENSP00000411461.2:p.Arg217His | |
| NM_015368.3:c.650G>A | NP_056183.2:p.Arg217His | |
| XM_005273863.2:c.224G>A | XP_005273920.1:p.Arg75His | |
| XM_011542734.1:c.224G>A | XP_011541036.1:p.Arg75His | |
| XM_011542734.2:c.224G>A | XP_011541036.1:p.Arg75His | |
| XM_017017464.1:c.224G>A | XP_016872953.1:p.Arg75His | |
| NM_015368.4:c.650G>A MANE Select | NP_056183.2:p.Arg217His |