Linked Data
ClinVar Variation Id:
740782
ClinVar RCV Id:
RCV000916880
dbSNP Id:
rs754197534
ExAC:
1:156563765 C / T
gnomAD v2:
1-156563765-C-T
gnomAD v3:
1-156593973-C-T
gnomAD v4:
1-156593973-C-T
COSMIC:
COSM3475318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156593973C>T , CM000663.2:g.156593973C>T | GRCh38 |
| NC_000001.10:g.156563765C>T , CM000663.1:g.156563765C>T | GRCh37 |
| NC_000001.9:g.154830389C>T | NCBI36 |
| NG_052542.1:g.7208C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368235.8:c.756C>T MANE Select | ENSP00000357218.3:p.Thr252= | |
| ENST00000467374.2:n.1929C>T | ||
| ENST00000679369.1:c.553+418C>T | ENSP00000505883.1:n.553+418C>T | |
| ENST00000679649.1:n.795C>T | ||
| ENST00000679702.1:c.756C>T | ENSP00000505913.1:p.Thr252= | |
| ENST00000679913.1:n.960C>T | ||
| ENST00000680004.1:c.756C>T | ENSP00000506275.1:p.Thr252= | |
| ENST00000680087.1:c.664+418C>T | ENSP00000505907.1:n.664+418C>T | |
| ENST00000680269.1:c.756C>T | ENSP00000505899.1:p.Thr252= | |
| ENST00000680529.1:n.940C>T | ||
| ENST00000680661.1:c.664+418C>T | ENSP00000505088.1:n.664+418C>T | |
| ENST00000681054.1:c.756C>T | ENSP00000506192.1:p.Thr252= | |
| ENST00000681523.1:c.756C>T | ENSP00000505349.1:p.Thr252= | |
| ENST00000681645.1:n.1121C>T | ||
| ENST00000681734.1:c.693C>T | ENSP00000506177.1:p.Thr231= | |
| ENST00000681825.1:n.1297C>T | ||
| ENST00000681922.1:n.1532C>T | ||
| ENST00000368234.7:c.700C>T | ENSP00000357217.3:p.Arg234Trp | |
| ENST00000368235.7:c.756C>T | ENSP00000357218.3:p.Thr252= | |
| ENST00000488840.1:n.373C>T | ||
| NM_144772.2:c.756C>T | NP_658985.2:p.Thr252= | |
| XM_017000319.2:c.681+401C>T | XP_016855808.1:n.681+401C>T | |
| NM_144772.3:c.756C>T MANE Select | NP_658985.2:p.Thr252= |