Linked Data
ClinVar Variation Id:
2294613
dbSNP Id:
rs116365278
ExAC:
1:156563851 C / T
gnomAD v2:
1-156563851-C-T
gnomAD v3:
1-156594059-C-T
gnomAD v4:
1-156594059-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156594059C>T , CM000663.2:g.156594059C>T | GRCh38 |
| NC_000001.10:g.156563851C>T , CM000663.1:g.156563851C>T | GRCh37 |
| NC_000001.9:g.154830475C>T | NCBI36 |
| NG_052542.1:g.7294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368235.8:c.842C>T MANE Select | ENSP00000357218.3:p.Thr281Ile | |
| ENST00000467374.2:n.2015C>T | ||
| ENST00000679369.1:c.553+504C>T | ENSP00000505883.1:n.553+504C>T | |
| ENST00000679649.1:n.881C>T | ||
| ENST00000679702.1:c.842C>T | ENSP00000505913.1:p.Thr281Ile | |
| ENST00000679913.1:n.1046C>T | ||
| ENST00000680004.1:c.842C>T | ENSP00000506275.1:p.Thr281Ile | |
| ENST00000680087.1:c.664+504C>T | ENSP00000505907.1:n.664+504C>T | |
| ENST00000680269.1:c.842C>T | ENSP00000505899.1:p.Thr281Ile | |
| ENST00000680529.1:n.1026C>T | ||
| ENST00000680661.1:c.664+504C>T | ENSP00000505088.1:n.664+504C>T | |
| ENST00000681054.1:c.842C>T | ENSP00000506192.1:p.Thr281Ile | |
| ENST00000681523.1:c.842C>T | ENSP00000505349.1:p.Thr281Ile | |
| ENST00000681645.1:n.1207C>T | ||
| ENST00000681734.1:c.779C>T | ENSP00000506177.1:p.Thr260Ile | |
| ENST00000681825.1:n.1383C>T | ||
| ENST00000681922.1:n.1618C>T | ||
| ENST00000368234.7:c.*3C>T | ENSP00000357217.3:n.*3C>T | |
| ENST00000368235.7:c.842C>T | ENSP00000357218.3:p.Thr281Ile | |
| ENST00000488840.1:n.459C>T | ||
| NM_144772.2:c.842C>T | NP_658985.2:p.Thr281Ile | |
| XM_017000319.2:c.681+487C>T | XP_016855808.1:n.681+487C>T | |
| NM_144772.3:c.842C>T MANE Select | NP_658985.2:p.Thr281Ile |