Linked Data
ClinVar Variation Id:
1533368
ClinVar RCV Id:
RCV002107203
dbSNP Id:
rs765108975
ExAC:
2:73799612 C / T
gnomAD v2:
2-73799612-C-T
gnomAD v4:
2-73572485-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572485C>T , CM000664.2:g.73572485C>T | GRCh38 |
| NC_000002.11:g.73799612C>T , CM000664.1:g.73799612C>T | GRCh37 |
| NC_000002.10:g.73653120C>T | NCBI36 |
| NG_011690.1:g.191733C>T , LRG_741:g.191733C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10227C>T | ENSP00000507671.1:p.Asp3409= | |
| ENST00000682801.1:c.10227C>T | ENSP00000507862.1:p.Asp3409= | |
| ENST00000682859.1:c.10227C>T | ENSP00000508222.1:p.Asp3409= | |
| ENST00000683791.1:c.3313C>T | ||
| ENST00000684460.1:c.7508C>T | ||
| ENST00000684548.1:c.10227C>T | ENSP00000507421.1:p.Asp3409= | |
| ENST00000684590.1:c.4674C>T | ENSP00000507376.1:p.Asp1558= | |
| ENST00000684656.1:c.7553C>T | ||
| ENST00000613296.6:c.10608C>T MANE Select | ENSP00000482968.1:p.Asp3536= | |
| ENST00000651057.1:c.762C>T | ENSP00000498504.1:p.Asp254= | |
| ENST00000651434.1:c.1964C>T | ||
| ENST00000652487.1:c.1705C>T | ||
| ENST00000423048.5:c.4099C>T | ENSP00000399833.1:n.4099C>T | |
| ENST00000484298.5:c.10482C>T | ENSP00000478155.1:p.Asp3494= | |
| ENST00000613296.4:c.10608C>T | ENSP00000482968.1:p.Asp3536= | |
| ENST00000614410.4:c.10608C>T | ENSP00000479094.1:p.Asp3536= | |
| ENST00000620466.4:n.4411C>T | ||
| NM_015120.4:c.10611C>T , LRG_741t1:c.10611C>T | NP_055935.4:p.Asp3537= | |
| NM_001378454.1:c.10608C>T MANE Select | NP_001365383.1:p.Asp3536= |