Linked Data
ClinVar Variation Id:
205394
dbSNP Id:
rs779993809
ExAC:
6:52288748 C / T
gnomAD v2:
6-52288748-C-T
gnomAD v3:
6-52423950-C-T
gnomAD v4:
6-52423950-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52423950C>T , CM000668.2:g.52423950C>T | GRCh38 |
| NC_000006.11:g.52288748C>T , CM000668.1:g.52288748C>T | GRCh37 |
| NC_000006.10:g.52396707C>T | NCBI36 |
| NG_016760.1:g.8755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.68C>T MANE Select | ENSP00000360107.4:p.Thr23Ile | |
| ENST00000480623.6:c.68C>T | ENSP00000434498.2:p.Thr23Ile | |
| ENST00000491749.2:n.92C>T | ||
| ENST00000635760.1:c.-257C>T | ENSP00000489765.1:n.-257C>T | |
| ENST00000635812.1:c.68C>T | ENSP00000490859.1:p.Thr23Ile | |
| ENST00000635843.1:n.106C>T | ||
| ENST00000635866.1:c.68C>T | ENSP00000489866.1:p.Thr23Ile | |
| ENST00000635911.1:n.329C>T | ||
| ENST00000635963.1:c.68C>T | ENSP00000489852.1:p.Thr23Ile | |
| ENST00000635984.1:c.-257C>T | ENSP00000489921.1:n.-257C>T | |
| ENST00000635996.1:c.68C>T | ENSP00000490256.1:p.Thr23Ile | |
| ENST00000636107.1:c.68C>T | ENSP00000489680.1:p.Thr23Ile | |
| ENST00000636311.1:n.102-3C>T | ||
| ENST00000636379.1:c.68C>T | ENSP00000490622.1:p.Thr23Ile | |
| ENST00000636489.1:c.11C>T | ENSP00000489998.1:p.Thr4Ile | |
| ENST00000636566.1:c.-257C>T | ENSP00000490602.1:n.-257C>T | |
| ENST00000636702.1:c.38C>T | ENSP00000489623.1:p.Thr13Ile | |
| ENST00000636954.1:c.11C>T | ENSP00000489966.1:p.Thr4Ile | |
| ENST00000637089.1:c.68C>T | ENSP00000489854.1:p.Thr23Ile | |
| ENST00000637200.1:c.68C>T | ENSP00000490567.1:p.Thr23Ile | |
| ENST00000637263.1:c.68C>T | ENSP00000489700.1:p.Thr23Ile | |
| ENST00000637315.1:c.50C>T | ENSP00000489708.1:p.Thr17Ile | |
| ENST00000637340.1:n.736C>T | ||
| ENST00000637353.1:c.68C>T | ENSP00000490441.1:p.Thr23Ile | |
| ENST00000637602.1:c.68C>T | ENSP00000490074.1:p.Thr23Ile | |
| ENST00000637849.1:n.132C>T | ||
| ENST00000637892.1:n.272C>T | ||
| ENST00000638075.1:c.-469-3C>T | ENSP00000490711.1:n.-469-3C>T | |
| ENST00000638140.1:n.182C>T | ||
| ENST00000371068.9:c.68C>T | ENSP00000360107.4:p.Thr23Ile | |
| ENST00000480623.5:c.68C>T | ENSP00000434498.1:p.Thr23Ile | |
| ENST00000491749.1:n.117C>T | ||
| ENST00000538167.2:c.11C>T | ENSP00000444521.1:p.Thr4Ile | |
| NM_001172420.1:c.11C>T | NP_001165891.1:p.Thr4Ile | |
| NM_018100.3:c.68C>T | NP_060570.2:p.Thr23Ile | |
| NR_033327.1:n.283C>T | ||
| NM_018100.4:c.68C>T MANE Select | NP_060570.2:p.Thr23Ile | |
| NM_001172420.2:c.11C>T | NP_001165891.1:p.Thr4Ile | |
| NR_033327.2:n.137C>T |