Linked Data
ClinVar Variation Id:
416683
dbSNP Id:
rs202242304
ExAC:
9:135797272 G / A
gnomAD v2:
9-135797272-G-A
gnomAD v3:
9-132921885-G-A
gnomAD v4:
9-132921885-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132921885G>A , CM000671.2:g.132921885G>A | GRCh38 |
| NC_000009.11:g.135797272G>A , CM000671.1:g.135797272G>A | GRCh37 |
| NC_000009.10:g.134787093G>A | NCBI36 |
| NG_012386.1:g.27749C>T , LRG_486:g.27749C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.597C>T | ENSP00000496126.2:p.Phe199= | |
| ENST00000490179.4:c.597C>T | ENSP00000495533.2:p.Phe199= | |
| ENST00000642261.2:c.597C>T | ENSP00000494743.2:p.Phe199= | |
| ENST00000643275.2:c.597C>T | ENSP00000495598.2:p.Phe199= | |
| ENST00000643362.2:c.444C>T | ENSP00000496398.2:p.Phe148= | |
| ENST00000643625.2:c.597C>T | ENSP00000495546.2:p.Phe199= | |
| ENST00000643691.2:c.234C>T | ENSP00000494916.2:p.Phe78= | |
| ENST00000644184.2:c.597C>T | ENSP00000495428.2:p.Phe199= | |
| ENST00000645129.2:c.444C>T | ENSP00000493639.2:p.Phe148= | |
| ENST00000646440.2:c.597C>T | ENSP00000495830.2:p.Phe199= | |
| ENST00000647078.2:c.597C>T | ENSP00000496066.1:p.Phe199= | |
| ENST00000298552.9:c.597C>T MANE Select | ENSP00000298552.3:p.Phe199= | |
| ENST00000403810.6:c.597C>T | ENSP00000386093.1:p.Phe199= | |
| ENST00000475903.6:c.597C>T | ENSP00000496126.1:p.Phe199= | |
| ENST00000642344.1:c.*338C>T | ENSP00000494847.1:n.*338C>T | |
| ENST00000642617.1:c.597C>T | ENSP00000493773.1:p.Phe199= | |
| ENST00000642627.1:c.597C>T | ENSP00000496772.1:p.Phe199= | |
| ENST00000642646.1:c.597C>T | ENSP00000496292.1:p.Phe199= | |
| ENST00000642745.1:c.597C>T | ENSP00000493963.1:p.Phe199= | |
| ENST00000642811.1:c.*367C>T | ENSP00000495554.1:n.*367C>T | |
| ENST00000642854.1:c.*382C>T | ENSP00000494639.1:n.*382C>T | |
| ENST00000643072.1:c.444C>T | ENSP00000496691.1:p.Phe148= | |
| ENST00000643362.1:c.444C>T | ENSP00000496398.1:p.Phe148= | |
| ENST00000643583.1:c.597C>T | ENSP00000494685.1:p.Phe199= | |
| ENST00000643691.1:c.234C>T | ENSP00000494916.1:p.Phe78= | |
| ENST00000643875.1:c.597C>T | ENSP00000495158.1:p.Phe199= | |
| ENST00000644097.1:c.597C>T | ENSP00000494682.1:p.Phe199= | |
| ENST00000644255.1:c.*367C>T | ENSP00000493608.1:n.*367C>T | |
| ENST00000644997.1:c.*254C>T | ENSP00000495654.1:n.*254C>T | |
| ENST00000645129.1:c.444C>T | ENSP00000493639.1:p.Phe148= | |
| ENST00000645150.1:c.597C>T | ENSP00000494365.1:p.Phe199= | |
| ENST00000645901.1:n.800C>T | ||
| ENST00000646391.1:c.*367C>T | ENSP00000494104.1:n.*367C>T | |
| ENST00000646625.1:c.597C>T | ENSP00000496263.1:p.Phe199= | |
| ENST00000647078.1:c.597C>T | ENSP00000496066.1:p.Phe199= | |
| ENST00000647279.1:c.597C>T | ENSP00000494502.1:p.Phe199= | |
| ENST00000647462.1:c.597C>T | ENSP00000495821.1:p.Phe199= | |
| ENST00000647506.1:n.825C>T | ||
| ENST00000298552.7:c.597C>T | ENSP00000298552.3:p.Phe199= | |
| ENST00000403810.5:c.597C>T | ENSP00000386093.1:p.Phe199= | |
| ENST00000440111.6:c.597C>T | ENSP00000394524.2:p.Phe199= | |
| ENST00000461879.5:n.426C>T | ||
| ENST00000475903.5:n.754C>T | ||
| ENST00000493467.5:n.793C>T | ||
| ENST00000545250.5:c.444C>T | ENSP00000444017.1:p.Phe148= | |
| NM_000368.4:c.597C>T , LRG_486t1:c.597C>T | NP_000359.1:p.Phe199= | |
| NM_001162426.1:c.597C>T | NP_001155898.1:p.Phe199= | |
| NM_001162427.1:c.444C>T | NP_001155899.1:p.Phe148= | |
| XM_005272211.1:c.597C>T | XP_005272268.1:p.Phe199= | |
| XM_006717271.1:c.597C>T | XP_006717334.1:p.Phe199= | |
| XM_006717272.2:c.597C>T | XP_006717335.1:p.Phe199= | |
| XM_011518979.1:c.597C>T | XP_011517281.1:p.Phe199= | |
| NM_001362177.1:c.234C>T | NP_001349106.1:p.Phe78= | |
| XM_011518979.2:c.597C>T | XP_011517281.1:p.Phe199= | |
| XM_017015096.1:c.597C>T | XP_016870585.1:p.Phe199= | |
| XM_017015097.1:c.597C>T | XP_016870586.1:p.Phe199= | |
| XM_017015098.1:c.597C>T | XP_016870587.1:p.Phe199= | |
| XM_017015100.1:c.234C>T | XP_016870589.1:p.Phe78= | |
| XM_017015101.1:c.234C>T | XP_016870590.1:p.Phe78= | |
| NM_000368.5:c.597C>T MANE Select | NP_000359.1:p.Phe199= | |
| NM_001162426.2:c.597C>T | NP_001155898.1:p.Phe199= | |
| NM_001162427.2:c.444C>T | NP_001155899.1:p.Phe148= | |
| NM_001362177.2:c.234C>T | NP_001349106.1:p.Phe78= |