Linked Data
ClinVar Variation Id:
389818
dbSNP Id:
rs371511963
ExAC:
2:73680191 C / T
gnomAD v2:
2-73680191-C-T
gnomAD v3:
2-73453064-C-T
gnomAD v4:
2-73453064-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73453064C>T , CM000664.2:g.73453064C>T | GRCh38 |
| NC_000002.11:g.73680191C>T , CM000664.1:g.73680191C>T | GRCh37 |
| NC_000002.10:g.73533699C>T | NCBI36 |
| NG_011690.1:g.72312C>T , LRG_741:g.72312C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.6156C>T | ENSP00000507671.1:p.Thr2052= | |
| ENST00000682801.1:c.6156C>T | ENSP00000507862.1:p.Thr2052= | |
| ENST00000682859.1:c.6156C>T | ENSP00000508222.1:p.Thr2052= | |
| ENST00000683791.1:c.685+20773C>T | ||
| ENST00000684197.1:n.1506C>T | ||
| ENST00000684460.1:c.3608C>T | ||
| ENST00000684548.1:c.6156C>T | ENSP00000507421.1:p.Thr2052= | |
| ENST00000684590.1:c.654C>T | ENSP00000507376.1:p.Thr218= | |
| ENST00000684656.1:c.3608C>T | ||
| ENST00000613296.6:c.6537C>T MANE Select | ENSP00000482968.1:p.Thr2179= | |
| ENST00000423048.5:c.1368C>T | ENSP00000399833.1:p.Thr456= | |
| ENST00000484298.5:c.6411C>T | ENSP00000478155.1:p.Thr2137= | |
| ENST00000613296.4:c.6537C>T | ENSP00000482968.1:p.Thr2179= | |
| ENST00000614410.4:c.6537C>T | ENSP00000479094.1:p.Thr2179= | |
| ENST00000620466.4:n.340C>T | ||
| NM_015120.4:c.6540C>T , LRG_741t1:c.6540C>T | NP_055935.4:p.Thr2180= | |
| NM_001378454.1:c.6537C>T MANE Select | NP_001365383.1:p.Thr2179= |