Linked Data
ClinVar Variation Id:
337274
dbSNP Id:
rs536257863
ExAC:
2:85785595 A / G
gnomAD v2:
2-85785595-A-G
gnomAD v3:
2-85558472-A-G
gnomAD v4:
2-85558472-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85558472A>G , CM000664.2:g.85558472A>G | GRCh38 |
| NC_000002.11:g.85785595A>G , CM000664.1:g.85785595A>G | GRCh37 |
| NC_000002.10:g.85639106A>G | NCBI36 |
| NG_011811.2:g.8063T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.604T>C | ||
| ENST00000482662.2:n.545T>C | ||
| ENST00000685865.1:n.910T>C | ||
| ENST00000687250.1:n.610T>C | ||
| ENST00000687995.1:n.859T>C | ||
| ENST00000688205.1:c.507T>C | ENSP00000509673.1:p.Phe169= | |
| ENST00000688788.1:n.910T>C | ||
| ENST00000689276.1:c.438T>C | ENSP00000510012.1:p.Phe146= | |
| ENST00000689576.1:c.507T>C | ENSP00000508712.1:p.Phe169= | |
| ENST00000690108.1:c.*163T>C | ENSP00000510617.1:n.*163T>C | |
| ENST00000690468.1:c.307T>C | ENSP00000509078.1:p.Ser103Pro | |
| ENST00000690595.1:c.214+2343T>C | ENSP00000508979.1:n.214+2343T>C | |
| ENST00000691348.1:c.336T>C | ENSP00000509369.1:p.Phe112= | |
| ENST00000691410.1:c.*163T>C | ENSP00000508479.1:n.*163T>C | |
| ENST00000693287.1:c.-66-2882T>C | ENSP00000510264.1:n.-66-2882T>C | |
| ENST00000693681.1:c.202+445T>C | ENSP00000510789.1:n.202+445T>C | |
| ENST00000233838.9:c.507T>C MANE Select | ENSP00000233838.3:p.Phe169= | |
| ENST00000233838.8:c.507T>C | ENSP00000233838.3:p.Phe169= | |
| ENST00000421496.5:c.*163T>C | ENSP00000400384.1:n.*163T>C | |
| ENST00000423570.5:c.*96+67T>C | ENSP00000389426.1:n.*96+67T>C | |
| ENST00000428479.3:c.*171T>C | ENSP00000390748.3:n.*171T>C | |
| ENST00000430215.7:c.336T>C | ENSP00000408045.3:p.Phe112= | |
| ENST00000465637.5:n.178+534T>C | ||
| NM_000821.5:c.507T>C | NP_000812.2:p.Phe169= | |
| NM_000821.6:c.507T>C | NP_000812.2:p.Phe169= | |
| NM_001142269.2:c.336T>C | NP_001135741.1:p.Phe112= | |
| NM_001142269.3:c.336T>C | NP_001135741.1:p.Phe112= | |
| XM_005264259.3:c.507T>C | XP_005264316.1:p.Phe169= | |
| XM_011532764.1:c.-152T>C | XP_011531066.1:n.-152T>C | |
| XM_011532765.1:c.-152T>C | XP_011531067.1:n.-152T>C | |
| XR_939677.1:n.572T>C | ||
| XM_005264259.5:c.507T>C | XP_005264316.1:p.Phe169= | |
| XM_011532764.3:c.-152T>C | XP_011531066.1:n.-152T>C | |
| XM_011532765.3:c.-152T>C | XP_011531067.1:n.-152T>C | |
| XM_017003803.2:c.336T>C | XP_016859292.1:p.Phe112= | |
| XR_001738703.2:n.572T>C | ||
| NM_000821.7:c.507T>C MANE Select | NP_000812.2:p.Phe169= | |
| NM_001142269.4:c.336T>C | NP_001135741.1:p.Phe112= |