Linked Data
ClinVar Variation Id:
48999
dbSNP Id:
rs118203733
ExAC:
9:135772842 C / T
gnomAD v2:
9-135772842-C-T
gnomAD v4:
9-132897455-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132897455C>T , CM000671.2:g.132897455C>T | GRCh38 |
| NC_000009.11:g.135772842C>T , CM000671.1:g.135772842C>T | GRCh37 |
| NC_000009.10:g.134762663C>T | NCBI36 |
| NG_012386.1:g.52179G>A , LRG_486:g.52179G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2778G>A | ENSP00000496126.2:p.Lys926= | |
| ENST00000490179.4:c.2781G>A | ENSP00000495533.2:p.Lys927= | |
| ENST00000642261.2:c.*560G>A | ENSP00000494743.2:n.*560G>A | |
| ENST00000643275.2:c.*721G>A | ENSP00000495598.2:n.*721G>A | |
| ENST00000643362.2:c.2394G>A | ENSP00000496398.2:p.Lys798= | |
| ENST00000643625.2:c.*523G>A | ENSP00000495546.2:n.*523G>A | |
| ENST00000643691.2:c.2418G>A | ENSP00000494916.2:p.Lys806= | |
| ENST00000644184.2:c.2739G>A | ENSP00000495428.2:p.Lys913= | |
| ENST00000645129.2:c.2625G>A | ENSP00000493639.2:p.Lys875= | |
| ENST00000646440.2:c.2781G>A | ENSP00000495830.2:p.Lys927= | |
| ENST00000298552.9:c.2781G>A MANE Select | ENSP00000298552.3:p.Lys927= | |
| ENST00000642261.1:c.841G>A | ||
| ENST00000642617.1:c.2778G>A | ENSP00000493773.1:p.Lys926= | |
| ENST00000642627.1:c.2763G>A | ENSP00000496772.1:p.Lys921= | |
| ENST00000642811.1:c.*2551G>A | ENSP00000495554.1:n.*2551G>A | |
| ENST00000643072.1:c.2628G>A | ENSP00000496691.1:p.Lys876= | |
| ENST00000643275.1:c.1255G>A | ENSP00000495598.1:n.1255G>A | |
| ENST00000643583.1:c.2766G>A | ENSP00000494685.1:p.Lys922= | |
| ENST00000643625.1:c.658G>A | ENSP00000495546.1:n.658G>A | |
| ENST00000643875.1:c.2781G>A | ENSP00000495158.1:p.Lys927= | |
| ENST00000644097.1:c.2778G>A | ENSP00000494682.1:p.Lys926= | |
| ENST00000644184.1:c.1476G>A | ENSP00000495428.1:p.Lys492= | |
| ENST00000644255.1:c.*2548G>A | ENSP00000493608.1:n.*2548G>A | |
| ENST00000644319.1:n.3156G>A | ||
| ENST00000644786.1:n.440G>A | ||
| ENST00000644882.1:n.1694G>A | ||
| ENST00000645901.1:n.3632G>A | ||
| ENST00000646391.1:c.*2551G>A | ENSP00000494104.1:n.*2551G>A | |
| ENST00000646625.1:c.2781G>A | ENSP00000496263.1:p.Lys927= | |
| ENST00000647262.1:n.1746G>A | ||
| ENST00000647279.1:c.*2020G>A | ENSP00000494502.1:n.*2020G>A | |
| ENST00000647534.1:n.1845G>A | ||
| ENST00000298552.7:c.2781G>A | ENSP00000298552.3:p.Lys927= | |
| ENST00000440111.6:c.2781G>A | ENSP00000394524.2:p.Lys927= | |
| ENST00000545250.5:c.2628G>A | ENSP00000444017.1:p.Lys876= | |
| NM_000368.4:c.2781G>A , LRG_486t1:c.2781G>A | NP_000359.1:p.Lys927= | |
| NM_001162426.1:c.2778G>A | NP_001155898.1:p.Lys926= | |
| NM_001162427.1:c.2628G>A | NP_001155899.1:p.Lys876= | |
| XM_005272211.1:c.2781G>A | XP_005272268.1:p.Lys927= | |
| XM_006717271.1:c.2781G>A | XP_006717334.1:p.Lys927= | |
| XM_011518979.1:c.2781G>A | XP_011517281.1:p.Lys927= | |
| NM_001362177.1:c.2418G>A | NP_001349106.1:p.Lys806= | |
| XM_011518979.2:c.2781G>A | XP_011517281.1:p.Lys927= | |
| XM_017015096.1:c.2781G>A | XP_016870585.1:p.Lys927= | |
| XM_017015097.1:c.2781G>A | XP_016870586.1:p.Lys927= | |
| XM_017015098.1:c.2778G>A | XP_016870587.1:p.Lys926= | |
| XM_017015100.1:c.2418G>A | XP_016870589.1:p.Lys806= | |
| XM_017015101.1:c.2415G>A | XP_016870590.1:p.Lys805= | |
| NM_000368.5:c.2781G>A MANE Select | NP_000359.1:p.Lys927= | |
| NM_001162426.2:c.2778G>A | NP_001155898.1:p.Lys926= | |
| NM_001162427.2:c.2628G>A | NP_001155899.1:p.Lys876= | |
| NM_001362177.2:c.2418G>A | NP_001349106.1:p.Lys806= |