Linked Data
ClinVar Variation Id:
383768
dbSNP Id:
rs7598901
ExAC:
2:73675844 C / T
gnomAD v2:
2-73675844-C-T
gnomAD v3:
2-73448717-C-T
gnomAD v4:
2-73448717-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73448717C>T , CM000664.2:g.73448717C>T | GRCh38 |
| NC_000002.11:g.73675844C>T , CM000664.1:g.73675844C>T | GRCh37 |
| NC_000002.10:g.73529352C>T | NCBI36 |
| NG_011690.1:g.67965C>T , LRG_741:g.67965C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.1809C>T | ENSP00000507671.1:p.Phe603= | |
| ENST00000682801.1:c.1809C>T | ENSP00000507862.1:p.Phe603= | |
| ENST00000682859.1:c.1809C>T | ENSP00000508222.1:p.Phe603= | |
| ENST00000683791.1:c.685+16426C>T | ||
| ENST00000684548.1:c.1809C>T | ENSP00000507421.1:p.Phe603= | |
| ENST00000613296.6:c.2190C>T MANE Select | ENSP00000482968.1:p.Phe730= | |
| ENST00000484298.5:c.2064C>T | ENSP00000478155.1:p.Phe688= | |
| ENST00000613296.4:c.2190C>T | ENSP00000482968.1:p.Phe730= | |
| ENST00000614410.4:c.2190C>T | ENSP00000479094.1:p.Phe730= | |
| NM_015120.4:c.2193C>T , LRG_741t1:c.2193C>T | NP_055935.4:p.Phe731= | |
| NM_001378454.1:c.2190C>T MANE Select | NP_001365383.1:p.Phe730= |