Linked Data
ClinVar Variation Id:
2769087
ClinVar RCV Id:
RCV003510358
dbSNP Id:
rs1354650556
gnomAD v2:
22-19906529-T-C
gnomAD v3:
22-19919006-T-C
gnomAD v4:
22-19919006-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19919006T>C , CM000684.2:g.19919006T>C | GRCh38 |
| NC_000022.10:g.19906529T>C , CM000684.1:g.19906529T>C | GRCh37 |
| NC_000022.9:g.18286529T>C | NCBI36 |
| NG_011835.1:g.27831A>G , LRG_417:g.27831A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400521.7:c.230-2A>G MANE Select | ENSP00000383365.1:n.230-2A>G | |
| ENST00000334363.14:c.230-2A>G | ENSP00000334451.9:n.230-2A>G | |
| ENST00000400518.5:c.140-2A>G | ENSP00000383362.1:n.140-2A>G | |
| ENST00000400519.6:c.227-2A>G | ENSP00000383363.1:n.227-2A>G | |
| ENST00000400521.6:c.230-2A>G | ENSP00000383365.1:n.230-2A>G | |
| ENST00000400525.6:c.161-2A>G | ENSP00000383369.3:n.161-2A>G | |
| ENST00000474308.5:c.173-2A>G | ENSP00000485665.1:n.173-2A>G | |
| ENST00000491939.6:c.134-2A>G | ENSP00000485543.1:n.134-2A>G | |
| ENST00000496729.2:n.235-2A>G | ||
| ENST00000542719.6:c.-59-2A>G | ENSP00000485128.2:n.-59-2A>G | |
| NM_001282512.1:c.230-2A>G | NP_001269441.1:n.230-2A>G | |
| NM_006440.4:c.230-2A>G | NP_006431.2:n.230-2A>G | |
| NM_001282512.2:c.230-2A>G | NP_001269441.1:n.230-2A>G | |
| NM_001352300.1:c.227-2A>G | NP_001339229.1:n.227-2A>G | |
| NM_001352301.1:c.140-2A>G | NP_001339230.1:n.140-2A>G | |
| NM_001352302.1:c.-59-2A>G | NP_001339231.1:n.-59-2A>G | |
| NM_001352303.1:c.134-2A>G | NP_001339232.1:n.134-2A>G | |
| NR_147957.1:n.362-2A>G | ||
| NM_006440.5:c.230-2A>G MANE Select | NP_006431.2:n.230-2A>G | |
| NM_001282512.3:c.230-2A>G | NP_001269441.1:n.230-2A>G | |
| NM_001352300.2:c.227-2A>G | NP_001339229.1:n.227-2A>G | |
| NR_147957.2:n.188-2A>G | ||
| NM_001352301.2:c.140-2A>G | NP_001339230.1:n.140-2A>G | |
| NM_001352302.2:c.-59-2A>G | NP_001339231.1:n.-59-2A>G | |
| NM_001352303.2:c.134-2A>G | NP_001339232.1:n.134-2A>G |