Linked Data
ClinVar Variation Id:
1105789
ClinVar RCV Id:
RCV001430292
dbSNP Id:
rs551755495
ExAC:
9:131303383 A / G
gnomAD v2:
9-131303383-A-G
gnomAD v3:
9-128541104-A-G
gnomAD v4:
9-128541104-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128541104A>G , CM000671.2:g.128541104A>G | GRCh38 |
| NC_000009.11:g.131303383A>G , CM000671.1:g.131303383A>G | GRCh37 |
| NC_000009.10:g.130343204A>G | NCBI36 |
| NG_012073.1:g.41413A>G , LRG_484:g.41413A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1102A>G | ENSP00000507095.1:n.*1102A>G | |
| ENST00000683288.1:c.*2030A>G | ENSP00000507477.1:n.*2030A>G | |
| ENST00000683748.1:c.2058A>G | ENSP00000507377.1:p.Lys686= | |
| ENST00000683905.1:c.*707A>G | ENSP00000506960.1:n.*707A>G | |
| ENST00000684139.1:c.1566A>G | ENSP00000507295.1:p.Lys522= | |
| ENST00000684210.1:n.1744A>G | ||
| ENST00000684314.1:c.1926A>G | ENSP00000507700.1:p.Lys642= | |
| ENST00000684331.1:c.*751A>G | ENSP00000507431.1:n.*751A>G | |
| ENST00000684463.1:n.669A>G | ||
| ENST00000684646.1:c.1818A>G | ENSP00000507723.1:p.Lys606= | |
| ENST00000309971.9:c.2031A>G MANE Select | ENSP00000308622.5:p.Lys677= | |
| ENST00000309971.8:c.2031A>G | ENSP00000308622.4:p.Lys677= | |
| NM_001003722.1:c.2031A>G , LRG_484t1:c.2031A>G | NP_001003722.1:p.Lys677= | |
| XM_006717059.2:c.2067A>G | XP_006717122.1:p.Lys689= | |
| XM_006717060.2:c.2040A>G | XP_006717123.1:p.Lys680= | |
| XM_011518549.1:c.2067A>G | XP_011516851.1:p.Lys689= | |
| XM_011518550.1:c.2067A>G | XP_011516852.1:p.Lys689= | |
| XM_011518551.1:c.2058A>G | XP_011516853.1:p.Lys686= | |
| XM_011518552.1:c.1308A>G | XP_011516854.1:p.Lys436= | |
| XR_242681.3:n.100+2275T>C | ||
| XM_006717059.3:c.2067A>G | XP_006717122.1:p.Lys689= | |
| XM_006717060.3:c.2040A>G | XP_006717123.1:p.Lys680= | |
| XM_011518551.2:c.2058A>G | XP_011516853.1:p.Lys686= | |
| XM_024447519.1:c.2040A>G | XP_024303287.1:p.Lys680= | |
| NM_001003722.2:c.2031A>G MANE Select | NP_001003722.1:p.Lys677= |