Linked Data
ClinVar Variation Id:
1431967
ClinVar RCV Id:
RCV001941027
dbSNP Id:
rs966584084
gnomAD v2:
17-8025071-G-T
gnomAD v3:
17-8121753-G-T
gnomAD v4:
17-8121753-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121753G>T , CM000679.2:g.8121753G>T | GRCh38 |
| NC_000017.10:g.8025071G>T , CM000679.1:g.8025071G>T | GRCh37 |
| NC_000017.9:g.7965796G>T | NCBI36 |
| NG_015807.1:g.2164C>A | |
| NG_015816.1:g.7340C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.511C>A MANE Select | ENSP00000446205.2:p.Gln171Lys | |
| ENST00000317814.8:c.496C>A | ENSP00000314774.4:p.Gln166Lys | |
| ENST00000541682.6:c.511C>A | ENSP00000446205.2:p.Gln171Lys | |
| NM_001165967.1:c.511C>A | NP_001159439.1:p.Gln171Lys | |
| NM_032580.3:c.496C>A | NP_115969.2:p.Gln166Lys | |
| XM_011524038.1:c.616C>A | XP_011522340.1:p.Gln206Lys | |
| XM_011524039.1:c.607C>A | XP_011522341.1:p.Gln203Lys | |
| XM_011524040.1:c.607C>A | XP_011522342.1:p.Gln203Lys | |
| XM_011524041.1:c.598C>A | XP_011522343.1:p.Gln200Lys | |
| XM_011524042.1:c.469C>A | XP_011522344.1:p.Gln157Lys | |
| XR_934203.1:n.69+1939G>T | ||
| XM_017025232.1:c.616C>A | XP_016880721.1:p.Gln206Lys | |
| XM_024451007.1:c.616C>A | XP_024306775.1:p.Gln206Lys | |
| NM_001165967.2:c.511C>A MANE Select | NP_001159439.1:p.Gln171Lys | |
| NM_032580.4:c.496C>A | NP_115969.2:p.Gln166Lys |