Linked Data
ClinVar Variation Id:
240702
dbSNP Id:
rs200310048
ExAC:
19:7600836 C / T
gnomAD v2:
19-7600836-C-T
gnomAD v3:
19-7535950-C-T
gnomAD v4:
19-7535950-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7535950C>T , CM000681.2:g.7535950C>T | GRCh38 |
| NC_000019.9:g.7600836C>T , CM000681.1:g.7600836C>T | GRCh37 |
| NC_000019.8:g.7506836C>T | NCBI36 |
| NG_013374.1:g.6799C>T | |
| NG_015806.1:g.18341C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.162C>T MANE Select | ENSP00000473211.1:p.Ile54= | |
| ENST00000221249.10:c.45C>T | ENSP00000221249.5:p.Ile15= | |
| ENST00000414982.7:c.189C>T | ENSP00000407509.2:p.Ile63= | |
| ENST00000450331.7:c.45C>T | ENSP00000394348.2:p.Ile15= | |
| ENST00000545201.6:c.45C>T | ENSP00000443323.1:p.Ile15= | |
| ENST00000593924.5:c.45C>T | ENSP00000469794.1:p.Ile15= | |
| ENST00000596515.5:c.45C>T | ENSP00000470461.1:p.Ile15= | |
| ENST00000600737.5:c.162C>T | ENSP00000473211.1:p.Ile54= | |
| ENST00000600942.5:c.45C>T | ENSP00000472572.1:p.Ile15= | |
| ENST00000601001.5:c.45C>T | ENSP00000472631.1:p.Ile15= | |
| ENST00000601668.5:c.45C>T | ENSP00000470608.1:p.Ile15= | |
| ENST00000601870.1:c.549C>T | ||
| NM_001166111.1:c.189C>T | NP_001159583.1:p.Ile63= | |
| NM_001166112.1:c.45C>T | NP_001159584.1:p.Ile15= | |
| NM_001166113.1:c.45C>T | NP_001159585.1:p.Ile15= | |
| NM_001166114.1:c.162C>T | NP_001159586.1:p.Ile54= | |
| NM_006702.4:c.45C>T | NP_006693.3:p.Ile15= | |
| NM_001166111.2:c.189C>T | NP_001159583.1:p.Ile63= | |
| NM_001166114.2:c.162C>T MANE Select | NP_001159586.1:p.Ile54= | |
| NM_006702.5:c.45C>T | NP_006693.3:p.Ile15= | |
| NM_001166112.2:c.45C>T | NP_001159584.1:p.Ile15= |