Linked Data
ClinVar Variation Id:
2011904
ClinVar RCV Id:
RCV002838756
dbSNP Id:
rs1233552029
gnomAD v2:
17-8215558-T-G
gnomAD v4:
17-8312240-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8312240T>G , CM000679.2:g.8312240T>G | GRCh38 |
| NC_000017.10:g.8215558T>G , CM000679.1:g.8215558T>G | GRCh37 |
| NC_000017.9:g.8156283T>G | NCBI36 |
| NG_034063.1:g.7003T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361926.8:c.201T>G MANE Select | ENSP00000355026.3:p.Ala67= | |
| ENST00000361926.7:c.201T>G | ENSP00000355026.3:p.Ala67= | |
| ENST00000421050.2:c.201T>G | ENSP00000412505.1:p.Ala67= | |
| ENST00000455564.3:n.314T>G | ||
| ENST00000579439.5:c.201T>G | ENSP00000464540.1:p.Ala67= | |
| ENST00000583529.1:c.201T>G | ENSP00000462796.1:p.Ala67= | |
| NM_025014.1:c.201T>G | NP_079290.1:p.Ala67= | |
| NM_173728.3:c.201T>G | NP_776089.2:p.Ala67= | |
| XM_011523734.1:c.201T>G | XP_011522036.1:p.Ala67= | |
| XM_011523735.1:c.201T>G | XP_011522037.1:p.Ala67= | |
| XM_011523736.1:c.201T>G | XP_011522038.1:p.Ala67= | |
| XM_011523734.2:c.201T>G | XP_011522036.1:p.Ala67= | |
| XM_011523736.2:c.201T>G | XP_011522038.1:p.Ala67= | |
| NM_173728.4:c.201T>G MANE Select | NP_776089.2:p.Ala67= | |
| NM_025014.2:c.201T>G | NP_079290.1:p.Ala67= |