Linked Data
ClinVar Variation Id:
412678
ClinVar RCV Id:
RCV000465577
dbSNP Id:
rs144703076
ExAC:
17:8215561 A / G
gnomAD v2:
17-8215561-A-G
gnomAD v3:
17-8312243-A-G
gnomAD v4:
17-8312243-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8312243A>G , CM000679.2:g.8312243A>G | GRCh38 |
| NC_000017.10:g.8215561A>G , CM000679.1:g.8215561A>G | GRCh37 |
| NC_000017.9:g.8156286A>G | NCBI36 |
| NG_034063.1:g.7006A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361926.8:c.204A>G MANE Select | ENSP00000355026.3:p.Ala68= | |
| ENST00000361926.7:c.204A>G | ENSP00000355026.3:p.Ala68= | |
| ENST00000421050.2:c.204A>G | ENSP00000412505.1:p.Ala68= | |
| ENST00000455564.3:n.317A>G | ||
| ENST00000579439.5:c.204A>G | ENSP00000464540.1:p.Ala68= | |
| ENST00000583529.1:c.204A>G | ENSP00000462796.1:p.Ala68= | |
| NM_025014.1:c.204A>G | NP_079290.1:p.Ala68= | |
| NM_173728.3:c.204A>G | NP_776089.2:p.Ala68= | |
| XM_011523734.1:c.204A>G | XP_011522036.1:p.Ala68= | |
| XM_011523735.1:c.204A>G | XP_011522037.1:p.Ala68= | |
| XM_011523736.1:c.204A>G | XP_011522038.1:p.Ala68= | |
| XM_011523734.2:c.204A>G | XP_011522036.1:p.Ala68= | |
| XM_011523736.2:c.204A>G | XP_011522038.1:p.Ala68= | |
| NM_173728.4:c.204A>G MANE Select | NP_776089.2:p.Ala68= | |
| NM_025014.2:c.204A>G | NP_079290.1:p.Ala68= |