Linked Data
ClinVar Variation Id:
2156705
ClinVar RCV Id:
RCV003075602
dbSNP Id:
rs1210414092
gnomAD v2:
2-73717340-T-A
gnomAD v4:
2-73490213-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490213T>A , CM000664.2:g.73490213T>A | GRCh38 |
| NC_000002.11:g.73717340T>A , CM000664.1:g.73717340T>A | GRCh37 |
| NC_000002.10:g.73570848T>A | NCBI36 |
| NG_011690.1:g.109461T>A , LRG_741:g.109461T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7873T>A | ENSP00000507671.1:p.Ser2625Thr | |
| ENST00000682801.1:c.7873T>A | ENSP00000507862.1:p.Ser2625Thr | |
| ENST00000682859.1:c.7873T>A | ENSP00000508222.1:p.Ser2625Thr | |
| ENST00000683791.1:c.1265T>A | ||
| ENST00000684460.1:c.5325T>A | ||
| ENST00000684548.1:c.7873T>A | ENSP00000507421.1:p.Ser2625Thr | |
| ENST00000684590.1:c.2320T>A | ENSP00000507376.1:p.Ser774Thr | |
| ENST00000684656.1:c.5325T>A | ||
| ENST00000613296.6:c.8254T>A MANE Select | ENSP00000482968.1:p.Ser2752Thr | |
| ENST00000651434.1:c.896-29562T>A | ||
| ENST00000423048.5:c.3030+55T>A | ENSP00000399833.1:n.3030+55T>A | |
| ENST00000484298.5:c.8128T>A | ENSP00000478155.1:p.Ser2710Thr | |
| ENST00000613296.4:c.8254T>A | ENSP00000482968.1:p.Ser2752Thr | |
| ENST00000614410.4:c.8254T>A | ENSP00000479094.1:p.Ser2752Thr | |
| ENST00000620466.4:n.2057T>A | ||
| NM_015120.4:c.8257T>A , LRG_741t1:c.8257T>A | NP_055935.4:p.Ser2753Thr | |
| NM_001378454.1:c.8254T>A MANE Select | NP_001365383.1:p.Ser2752Thr |