Linked Data
ClinVar Variation Id:
2186015
ClinVar RCV Id:
RCV002619944
dbSNP Id:
rs1220294777
gnomAD v2:
2-73716940-C-G
gnomAD v3:
2-73489813-C-G
gnomAD v4:
2-73489813-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73489813C>G , CM000664.2:g.73489813C>G | GRCh38 |
| NC_000002.11:g.73716940C>G , CM000664.1:g.73716940C>G | GRCh37 |
| NC_000002.10:g.73570448C>G | NCBI36 |
| NG_011690.1:g.109061C>G , LRG_741:g.109061C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7473C>G | ENSP00000507671.1:p.Asn2491Lys | |
| ENST00000682801.1:c.7473C>G | ENSP00000507862.1:p.Asn2491Lys | |
| ENST00000682859.1:c.7473C>G | ENSP00000508222.1:p.Asn2491Lys | |
| ENST00000683791.1:c.865C>G | ||
| ENST00000684460.1:c.4925C>G | ||
| ENST00000684548.1:c.7473C>G | ENSP00000507421.1:p.Asn2491Lys | |
| ENST00000684590.1:c.1920C>G | ENSP00000507376.1:p.Asn640Lys | |
| ENST00000684656.1:c.4925C>G | ||
| ENST00000613296.6:c.7854C>G MANE Select | ENSP00000482968.1:p.Asn2618Lys | |
| ENST00000651434.1:c.896-29962C>G | ||
| ENST00000423048.5:c.2685C>G | ENSP00000399833.1:p.Asn895Lys | |
| ENST00000484298.5:c.7728C>G | ENSP00000478155.1:p.Asn2576Lys | |
| ENST00000613296.4:c.7854C>G | ENSP00000482968.1:p.Asn2618Lys | |
| ENST00000614410.4:c.7854C>G | ENSP00000479094.1:p.Asn2618Lys | |
| ENST00000620466.4:n.1657C>G | ||
| NM_015120.4:c.7857C>G , LRG_741t1:c.7857C>G | NP_055935.4:p.Asn2619Lys | |
| NM_001378454.1:c.7854C>G MANE Select | NP_001365383.1:p.Asn2618Lys |