Linked Data
ClinVar Variation Id:
451665
dbSNP Id:
rs1288519568
gnomAD v3:
2-73452210-T-A
gnomAD v4:
2-73452210-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73452210T>A , CM000664.2:g.73452210T>A | GRCh38 |
| NC_000002.11:g.73679337T>A , CM000664.1:g.73679337T>A | GRCh37 |
| NC_000002.10:g.73532845T>A | NCBI36 |
| NG_011690.1:g.71458T>A , LRG_741:g.71458T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.5302T>A | ENSP00000507671.1:p.Ser1768Thr | |
| ENST00000682801.1:c.5302T>A | ENSP00000507862.1:p.Ser1768Thr | |
| ENST00000682859.1:c.5302T>A | ENSP00000508222.1:p.Ser1768Thr | |
| ENST00000683791.1:c.685+19919T>A | ||
| ENST00000684197.1:n.652T>A | ||
| ENST00000684460.1:c.2754T>A | ||
| ENST00000684548.1:c.5302T>A | ENSP00000507421.1:p.Ser1768Thr | |
| ENST00000684656.1:c.2754T>A | ||
| ENST00000613296.6:c.5683T>A MANE Select | ENSP00000482968.1:p.Ser1895Thr | |
| ENST00000423048.5:c.514T>A | ENSP00000399833.1:p.Ser172Thr | |
| ENST00000484298.5:c.5557T>A | ENSP00000478155.1:p.Ser1853Thr | |
| ENST00000613296.4:c.5683T>A | ENSP00000482968.1:p.Ser1895Thr | |
| ENST00000614410.4:c.5683T>A | ENSP00000479094.1:p.Ser1895Thr | |
| NM_015120.4:c.5686T>A , LRG_741t1:c.5686T>A | NP_055935.4:p.Ser1896Thr | |
| NM_001378454.1:c.5683T>A MANE Select | NP_001365383.1:p.Ser1895Thr |