Linked Data
ClinVar Variation Id:
1035900
ClinVar RCV Id:
RCV001338835
dbSNP Id:
rs2071157517
gnomAD v4:
17-7220635-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220635A>G , CM000679.2:g.7220635A>G | GRCh38 |
| NC_000017.10:g.7123954A>G , CM000679.1:g.7123954A>G | GRCh37 |
| NC_000017.9:g.7064678A>G | NCBI36 |
| NG_007975.1:g.5802A>G | |
| NG_008391.2:g.4416T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.236A>G MANE Select | ENSP00000349297.5:p.Lys79Arg | |
| ENST00000322910.9:c.*191A>G | ENSP00000325395.5:n.*191A>G | |
| ENST00000350303.9:c.170A>G | ENSP00000344152.5:p.Lys57Arg | |
| ENST00000356839.9:c.236A>G | ENSP00000349297.5:p.Lys79Arg | |
| ENST00000543245.6:c.305A>G | ENSP00000438689.2:p.Lys102Arg | |
| ENST00000577191.5:n.313A>G | ||
| ENST00000577433.5:n.444A>G | ||
| ENST00000577857.5:n.229-131A>G | ||
| ENST00000578269.5:n.683A>G | ||
| ENST00000578421.1:n.444A>G | ||
| ENST00000579286.5:n.417A>G | ||
| ENST00000579886.2:c.201+109A>G | ENSP00000463246.1:n.201+109A>G | |
| ENST00000580263.5:n.400A>G | ||
| ENST00000581562.5:n.283A>G | ||
| ENST00000582056.5:n.326A>G | ||
| ENST00000582166.1:n.124A>G | ||
| ENST00000582356.5:n.435A>G | ||
| ENST00000583312.5:c.236A>G | ENSP00000467920.1:p.Lys79Arg | |
| ENST00000584103.5:c.236A>G | ENSP00000465353.1:p.Lys79Arg | |
| NM_000018.3:c.236A>G | NP_000009.1:p.Lys79Arg | |
| NM_001033859.2:c.170A>G | NP_001029031.1:p.Lys57Arg | |
| NM_001270447.1:c.305A>G | NP_001257376.1:p.Lys102Arg | |
| NM_001270448.1:c.8A>G | NP_001257377.1:p.Lys3Arg | |
| XM_006721516.2:c.236A>G | XP_006721579.2:p.Lys79Arg | |
| XM_011523829.1:c.236A>G | XP_011522131.1:p.Lys79Arg | |
| XM_011523830.1:c.236A>G | XP_011522132.1:p.Lys79Arg | |
| XR_934021.1:n.343A>G | ||
| XR_934022.1:n.343A>G | ||
| XR_934023.1:n.343A>G | ||
| XM_006721516.3:c.236A>G | XP_006721579.2:p.Lys79Arg | |
| XM_011523829.2:c.236A>G | XP_011522131.1:p.Lys79Arg | |
| XM_011523830.2:c.236A>G | XP_011522132.1:p.Lys79Arg | |
| XM_024450741.1:c.236A>G | XP_024306509.1:p.Lys79Arg | |
| XR_934021.2:n.295A>G | ||
| XR_934022.2:n.295A>G | ||
| XR_934023.2:n.295A>G | ||
| NM_000018.4:c.236A>G MANE Select | NP_000009.1:p.Lys79Arg | |
| NM_001033859.3:c.170A>G | NP_001029031.1:p.Lys57Arg | |
| NM_001270447.2:c.305A>G | NP_001257376.1:p.Lys102Arg | |
| NM_001270448.2:c.8A>G | NP_001257377.1:p.Lys3Arg |