Linked Data
ClinVar Variation Id:
2611138
ClinVar RCV Id:
RCV004351864
dbSNP Id:
rs1297999877
gnomAD v2:
1-8932030-G-C
gnomAD v3:
1-8871971-G-C
gnomAD v4:
1-8871971-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8871971G>C , CM000663.2:g.8871971G>C | GRCh38 |
| NC_000001.10:g.8932030G>C , CM000663.1:g.8932030G>C | GRCh37 |
| NC_000001.9:g.8854617G>C | NCBI36 |
| NG_029470.1:g.12122C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234590.10:c.101C>G MANE Select | ENSP00000234590.4:p.Ala34Gly | |
| ENST00000489867.2:c.101C>G | ENSP00000468392.2:p.Ala34Gly | |
| ENST00000492343.2:n.223C>G | ||
| ENST00000643438.1:c.101C>G | ENSP00000495805.1:p.Ala34Gly | |
| ENST00000645609.1:n.623C>G | ||
| ENST00000646156.1:c.-71C>G | ENSP00000495581.1:n.-71C>G | |
| ENST00000646370.2:c.101C>G | ENSP00000495568.1:p.Ala34Gly | |
| ENST00000646660.1:c.101C>G | ENSP00000494470.1:p.Ala34Gly | |
| ENST00000646680.1:c.101C>G | ENSP00000495946.1:p.Ala34Gly | |
| ENST00000646906.1:c.101C>G | ENSP00000496562.1:p.Ala34Gly | |
| ENST00000647408.1:c.101C>G | ENSP00000495530.1:p.Ala34Gly | |
| ENST00000234590.8:c.101C>G | ENSP00000234590.4:p.Ala34Gly | |
| ENST00000486051.5:n.219C>G | ||
| ENST00000492343.1:n.207C>G | ||
| ENST00000497492.1:c.101C>G | ENSP00000466406.1:p.Ala34Gly | |
| NM_001428.3:c.101C>G | NP_001419.1:p.Ala34Gly | |
| XM_006710433.1:c.101C>G | XP_006710496.1:p.Ala34Gly | |
| NM_001201483.3:c.-1559C>G | NP_001188412.1:n.-1559C>G | |
| NM_001353346.2:c.101C>G | NP_001340275.1:p.Ala34Gly | |
| NM_001428.5:c.101C>G MANE Select | NP_001419.1:p.Ala34Gly | |
| NM_001201483.4:c.-1559C>G | NP_001188412.1:n.-1559C>G | |
| NM_001353346.3:c.101C>G | NP_001340275.1:p.Ala34Gly |