Linked Data
ClinVar Variation Id:
1418597
ClinVar RCV Id:
RCV001952194
dbSNP Id:
rs113167728
gnomAD v3:
16-1362288-C-T
gnomAD v4:
16-1362288-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362288C>T , CM000678.2:g.1362288C>T | GRCh38 |
| NC_000016.9:g.1412289C>T , CM000678.1:g.1412289C>T | GRCh37 |
| NC_000016.8:g.1352290C>T | NCBI36 |
| NG_016985.1:g.15390C>T | |
| NG_033129.1:g.57417G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.593C>T | ||
| ENST00000529110.2:c.578C>T | ENSP00000435349.2:p.Thr193Ile | |
| ENST00000529957.6:n.552C>T | ||
| ENST00000683366.1:c.*226C>T | ENSP00000507283.1:n.*226C>T | |
| ENST00000683887.1:c.542C>T | ENSP00000506886.1:p.Thr181Ile | |
| ENST00000684100.1:n.488C>T | ||
| ENST00000684126.1:n.552C>T | ||
| ENST00000684688.1:n.1119C>T | ||
| ENST00000204679.9:c.494C>T MANE Select | ENSP00000204679.4:p.Thr165Ile | |
| ENST00000204679.8:c.494C>T | ENSP00000204679.4:p.Thr165Ile | |
| ENST00000527076.1:n.1510C>T | ||
| ENST00000527168.5:n.530C>T | ||
| ENST00000529957.5:n.593C>T | ||
| NM_032520.4:c.494C>T | NP_115909.1:p.Thr165Ile | |
| XM_017023782.1:c.542C>T | XP_016879271.1:p.Thr181Ile | |
| XM_017023783.1:c.134C>T | XP_016879272.1:p.Thr45Ile | |
| NM_032520.5:c.494C>T MANE Select | NP_115909.1:p.Thr165Ile |