Linked Data
ClinVar Variation Id:
2041066
ClinVar RCV Id:
RCV002890931
dbSNP Id:
rs1381406599
gnomAD v2:
2-73799697-A-T
gnomAD v4:
2-73572570-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572570A>T , CM000664.2:g.73572570A>T | GRCh38 |
| NC_000002.11:g.73799697A>T , CM000664.1:g.73799697A>T | GRCh37 |
| NC_000002.10:g.73653205A>T | NCBI36 |
| NG_011690.1:g.191818A>T , LRG_741:g.191818A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10312A>T | ENSP00000507671.1:p.Ser3438Cys | |
| ENST00000682801.1:c.10312A>T | ENSP00000507862.1:p.Ser3438Cys | |
| ENST00000682859.1:c.10312A>T | ENSP00000508222.1:p.Ser3438Cys | |
| ENST00000683791.1:c.3398A>T | ||
| ENST00000684460.1:c.7593A>T | ||
| ENST00000684548.1:c.10312A>T | ENSP00000507421.1:p.Ser3438Cys | |
| ENST00000684590.1:c.4759A>T | ENSP00000507376.1:p.Ser1587Cys | |
| ENST00000684656.1:c.7638A>T | ||
| ENST00000613296.6:c.10693A>T MANE Select | ENSP00000482968.1:p.Ser3565Cys | |
| ENST00000651057.1:c.847A>T | ENSP00000498504.1:p.Ser283Cys | |
| ENST00000651434.1:c.2049A>T | ||
| ENST00000651750.1:c.81A>T | ||
| ENST00000652487.1:c.1790A>T | ||
| ENST00000423048.5:c.4184A>T | ENSP00000399833.1:n.4184A>T | |
| ENST00000484298.5:c.10567A>T | ENSP00000478155.1:p.Ser3523Cys | |
| ENST00000613296.4:c.10693A>T | ENSP00000482968.1:p.Ser3565Cys | |
| ENST00000614410.4:c.10693A>T | ENSP00000479094.1:p.Ser3565Cys | |
| ENST00000620466.4:n.4496A>T | ||
| NM_015120.4:c.10696A>T , LRG_741t1:c.10696A>T | NP_055935.4:p.Ser3566Cys | |
| NM_001378454.1:c.10693A>T MANE Select | NP_001365383.1:p.Ser3565Cys |