Linked Data
ClinVar Variation Id:
1410798
ClinVar RCV Id:
RCV001916565
dbSNP Id:
rs1357578376
gnomAD v2:
2-73799687-T-C
gnomAD v4:
2-73572560-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572560T>C , CM000664.2:g.73572560T>C | GRCh38 |
| NC_000002.11:g.73799687T>C , CM000664.1:g.73799687T>C | GRCh37 |
| NC_000002.10:g.73653195T>C | NCBI36 |
| NG_011690.1:g.191808T>C , LRG_741:g.191808T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10302T>C | ENSP00000507671.1:p.Asp3434= | |
| ENST00000682801.1:c.10302T>C | ENSP00000507862.1:p.Asp3434= | |
| ENST00000682859.1:c.10302T>C | ENSP00000508222.1:p.Asp3434= | |
| ENST00000683791.1:c.3388T>C | ||
| ENST00000684460.1:c.7583T>C | ||
| ENST00000684548.1:c.10302T>C | ENSP00000507421.1:p.Asp3434= | |
| ENST00000684590.1:c.4749T>C | ENSP00000507376.1:p.Asp1583= | |
| ENST00000684656.1:c.7628T>C | ||
| ENST00000613296.6:c.10683T>C MANE Select | ENSP00000482968.1:p.Asp3561= | |
| ENST00000651057.1:c.837T>C | ENSP00000498504.1:p.Asp279= | |
| ENST00000651434.1:c.2039T>C | ||
| ENST00000651750.1:c.71T>C | ||
| ENST00000652487.1:c.1780T>C | ||
| ENST00000423048.5:c.4174T>C | ENSP00000399833.1:n.4174T>C | |
| ENST00000484298.5:c.10557T>C | ENSP00000478155.1:p.Asp3519= | |
| ENST00000613296.4:c.10683T>C | ENSP00000482968.1:p.Asp3561= | |
| ENST00000614410.4:c.10683T>C | ENSP00000479094.1:p.Asp3561= | |
| ENST00000620466.4:n.4486T>C | ||
| NM_015120.4:c.10686T>C , LRG_741t1:c.10686T>C | NP_055935.4:p.Asp3562= | |
| NM_001378454.1:c.10683T>C MANE Select | NP_001365383.1:p.Asp3561= |