Linked Data
ClinVar Variation Id:
643626
ClinVar RCV Id:
RCV000797373
dbSNP Id:
rs763386020
ExAC:
17:8215701 G / A
gnomAD v2:
17-8215701-G-A
gnomAD v3:
17-8312383-G-A
gnomAD v4:
17-8312383-G-A
COSMIC:
COSM4580287
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8312383G>A , CM000679.2:g.8312383G>A | GRCh38 |
| NC_000017.10:g.8215701G>A , CM000679.1:g.8215701G>A | GRCh37 |
| NC_000017.9:g.8156426G>A | NCBI36 |
| NG_034063.1:g.7146G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361926.8:c.344G>A MANE Select | ENSP00000355026.3:p.Arg115Gln | |
| ENST00000361926.7:c.344G>A | ENSP00000355026.3:p.Arg115Gln | |
| ENST00000421050.2:c.344G>A | ENSP00000412505.1:p.Arg115Gln | |
| ENST00000455564.3:n.457G>A | ||
| ENST00000579439.5:c.344G>A | ENSP00000464540.1:p.Arg115Gln | |
| ENST00000583529.1:c.344G>A | ENSP00000462796.1:p.Arg115Gln | |
| NM_025014.1:c.344G>A | NP_079290.1:p.Arg115Gln | |
| NM_173728.3:c.344G>A | NP_776089.2:p.Arg115Gln | |
| XM_011523734.1:c.344G>A | XP_011522036.1:p.Arg115Gln | |
| XM_011523735.1:c.344G>A | XP_011522037.1:p.Arg115Gln | |
| XM_011523736.1:c.344G>A | XP_011522038.1:p.Arg115Gln | |
| XM_011523734.2:c.344G>A | XP_011522036.1:p.Arg115Gln | |
| XM_011523736.2:c.344G>A | XP_011522038.1:p.Arg115Gln | |
| NM_173728.4:c.344G>A MANE Select | NP_776089.2:p.Arg115Gln | |
| NM_025014.2:c.344G>A | NP_079290.1:p.Arg115Gln |