Linked Data
ClinVar Variation Id:
383763
dbSNP Id:
rs11884776
ExAC:
2:73746923 C / T
gnomAD v2:
2-73746923-C-T
gnomAD v3:
2-73519796-C-T
gnomAD v4:
2-73519796-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73519796C>T , CM000664.2:g.73519796C>T | GRCh38 |
| NC_000002.11:g.73746923C>T , CM000664.1:g.73746923C>T | GRCh37 |
| NC_000002.10:g.73600431C>T | NCBI36 |
| NG_011690.1:g.139044C>T , LRG_741:g.139044C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682565.1:c.9180C>T | ENSP00000507671.1:p.Thr3060= | |
| ENST00000682801.1:c.9180C>T | ENSP00000507862.1:p.Thr3060= | |
| ENST00000682859.1:c.9180C>T | ENSP00000508222.1:p.Thr3060= | |
| ENST00000683791.1:c.2572C>T | ||
| ENST00000684460.1:c.6632C>T | ||
| ENST00000684548.1:c.9180C>T | ENSP00000507421.1:p.Thr3060= | |
| ENST00000684590.1:c.3627C>T | ENSP00000507376.1:p.Thr1209= | |
| ENST00000684656.1:c.6632C>T | ||
| ENST00000613296.6:c.9561C>T MANE Select | ENSP00000482968.1:p.Thr3187= | |
| ENST00000651434.1:c.917C>T | ||
| ENST00000652487.1:c.658C>T | ||
| ENST00000423048.5:c.3052C>T | ENSP00000399833.1:p.Pro1018Ser | |
| ENST00000484298.5:c.9435C>T | ENSP00000478155.1:p.Thr3145= | |
| ENST00000613296.4:c.9561C>T | ENSP00000482968.1:p.Thr3187= | |
| ENST00000614410.4:c.9561C>T | ENSP00000479094.1:p.Thr3187= | |
| ENST00000620466.4:n.3364C>T | ||
| NM_015120.4:c.9564C>T , LRG_741t1:c.9564C>T | NP_055935.4:p.Thr3188= | |
| NM_001378454.1:c.9561C>T MANE Select | NP_001365383.1:p.Thr3187= |