Linked Data
ClinVar Variation Id:
166644
dbSNP Id:
rs727503792
ExAC:
17:7126099 A / C
gnomAD v2:
17-7126099-A-C
gnomAD v3:
17-7222780-A-C
gnomAD v4:
17-7222780-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222780A>C , CM000679.2:g.7222780A>C | GRCh38 |
| NC_000017.10:g.7126099A>C , CM000679.1:g.7126099A>C | GRCh37 |
| NC_000017.9:g.7066823A>C | NCBI36 |
| NG_007975.1:g.7947A>C | |
| NG_008391.2:g.2271T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.992A>C MANE Select | ENSP00000349297.5:p.Lys331Thr | |
| ENST00000322910.9:c.*947A>C | ENSP00000325395.5:n.*947A>C | |
| ENST00000350303.9:c.926A>C | ENSP00000344152.5:p.Lys309Thr | |
| ENST00000356839.9:c.992A>C | ENSP00000349297.5:p.Lys331Thr | |
| ENST00000543245.6:c.1061A>C | ENSP00000438689.2:p.Lys354Thr | |
| ENST00000578824.5:n.141A>C | ||
| ENST00000581378.5:c.710A>C | ||
| ENST00000582379.1:n.376A>C | ||
| ENST00000583858.5:c.21A>C | ||
| NM_000018.3:c.992A>C | NP_000009.1:p.Lys331Thr | |
| NM_001033859.2:c.926A>C | NP_001029031.1:p.Lys309Thr | |
| NM_001270447.1:c.1061A>C | NP_001257376.1:p.Lys354Thr | |
| NM_001270448.1:c.764A>C | NP_001257377.1:p.Lys255Thr | |
| XM_006721516.2:c.992A>C | XP_006721579.2:p.Lys331Thr | |
| XM_011523829.1:c.992A>C | XP_011522131.1:p.Lys331Thr | |
| XM_011523830.1:c.992A>C | XP_011522132.1:p.Lys331Thr | |
| XR_934021.1:n.1099A>C | ||
| XR_934022.1:n.1099A>C | ||
| XR_934023.1:n.1099A>C | ||
| XM_006721516.3:c.992A>C | XP_006721579.2:p.Lys331Thr | |
| XM_011523829.2:c.992A>C | XP_011522131.1:p.Lys331Thr | |
| XM_011523830.2:c.992A>C | XP_011522132.1:p.Lys331Thr | |
| XM_024450741.1:c.992A>C | XP_024306509.1:p.Lys331Thr | |
| XR_934021.2:n.1051A>C | ||
| XR_934022.2:n.1051A>C | ||
| XR_934023.2:n.1051A>C | ||
| NM_000018.4:c.992A>C MANE Select | NP_000009.1:p.Lys331Thr | |
| NM_001033859.3:c.926A>C | NP_001029031.1:p.Lys309Thr | |
| NM_001270447.2:c.1061A>C | NP_001257376.1:p.Lys354Thr | |
| NM_001270448.2:c.764A>C | NP_001257377.1:p.Lys255Thr |