Linked Data
ClinVar Variation Id:
2749745
ClinVar RCV Id:
RCV003568595
dbSNP Id:
rs762231496
ExAC:
2:165953878 T / A
gnomAD v2:
2-165953878-T-A
gnomAD v3:
2-165097368-T-A
gnomAD v4:
2-165097368-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165097368T>A , CM000664.2:g.165097368T>A | GRCh38 |
| NC_000002.11:g.165953878T>A , CM000664.1:g.165953878T>A | GRCh37 |
| NC_000002.10:g.165662124T>A | NCBI36 |
| NG_042289.1:g.111721A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706067.1:c.4072A>T | ENSP00000516211.1:p.Ile1358Phe | |
| ENST00000283254.12:c.4123A>T MANE Select | ENSP00000283254.7:p.Ile1375Phe | |
| ENST00000638473.1:c.*1964A>T | ENSP00000491552.1:n.*1964A>T | |
| ENST00000639244.1:c.4072A>T | ENSP00000492251.1:p.Ile1358Phe | |
| ENST00000640652.1:c.*857A>T | ENSP00000492807.1:n.*857A>T | |
| ENST00000658209.1:c.2332A>T | ENSP00000499598.1:n.2332A>T | |
| ENST00000283254.11:c.4123A>T | ENSP00000283254.7:p.Ile1375Phe | |
| ENST00000360093.7:c.4123A>T | ENSP00000353206.3:p.Ile1375Phe | |
| ENST00000409101.7:c.3976A>T | ENSP00000386726.3:p.Ile1326Phe | |
| ENST00000440431.6:c.3976A>T | ENSP00000403348.1:p.Ile1326Phe | |
| ENST00000471697.1:n.247A>T | ||
| NM_001081676.1:c.3976A>T | NP_001075145.1:p.Ile1326Phe | |
| NM_001081677.1:c.3976A>T | NP_001075146.1:p.Ile1326Phe | |
| NM_006922.3:c.4123A>T | NP_008853.3:p.Ile1375Phe | |
| XM_006712679.1:c.4123A>T | XP_006712742.1:p.Ile1375Phe | |
| XM_011511610.1:c.4123A>T | XP_011509912.1:p.Ile1375Phe | |
| XM_011511611.1:c.4123A>T | XP_011509913.1:p.Ile1375Phe | |
| XM_011511612.1:c.4072A>T | XP_011509914.1:p.Ile1358Phe | |
| XM_011511613.1:c.2233A>T | XP_011509915.1:p.Ile745Phe | |
| XM_011511610.3:c.4123A>T | XP_011509912.1:p.Ile1375Phe | |
| XM_011511613.3:c.2233A>T | XP_011509915.1:p.Ile745Phe | |
| XM_017004660.2:c.4123A>T | XP_016860149.1:p.Ile1375Phe | |
| XM_017004661.2:c.4072A>T | XP_016860150.1:p.Ile1358Phe | |
| XM_017004662.2:c.3985A>T | XP_016860151.1:p.Ile1329Phe | |
| XM_017004663.2:c.2233A>T | XP_016860152.1:p.Ile745Phe | |
| NM_006922.4:c.4123A>T MANE Select | NP_008853.3:p.Ile1375Phe | |
| NM_001081676.2:c.3976A>T | NP_001075145.1:p.Ile1326Phe | |
| NM_001081677.2:c.3976A>T | NP_001075146.1:p.Ile1326Phe |