Linked Data
ClinVar Variation Id:
2946506
ClinVar RCV Id:
RCV003808744
dbSNP Id:
rs534362725
ExAC:
2:20166467 A / C
gnomAD v2:
2-20166467-A-C
gnomAD v3:
2-19966706-A-C
gnomAD v4:
2-19966706-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19966706A>C , CM000664.2:g.19966706A>C | GRCh38 |
| NC_000002.11:g.20166467A>C , CM000664.1:g.20166467A>C | GRCh37 |
| NC_000002.10:g.20029948A>C | NCBI36 |
| NG_021212.1:g.28418T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.1194+18T>G MANE Select | ENSP00000281405.5:n.1194+18T>G | |
| ENST00000345530.8:c.1194+18T>G MANE Plus Clinical | ENSP00000314444.5:n.1194+18T>G | |
| ENST00000281405.8:c.1194+18T>G | ENSP00000281405.4:n.1194+18T>G | |
| ENST00000345530.7:c.1194+18T>G | ENSP00000314444.5:n.1194+18T>G | |
| ENST00000414212.5:c.1194+18T>G | ENSP00000390802.1:n.1194+18T>G | |
| ENST00000445063.5:c.731+18T>G | ||
| NM_001006657.1:c.1194+18T>G | NP_001006658.1:n.1194+18T>G | |
| NM_020779.3:c.1194+18T>G | NP_065830.2:n.1194+18T>G | |
| XM_011533007.1:c.-18+18T>G | XP_011531309.1:n.-18+18T>G | |
| XR_426989.2:n.1227+18T>G | ||
| XR_939699.1:n.1227+18T>G | ||
| XM_011533007.2:c.-18+18T>G | XP_011531309.1:n.-18+18T>G | |
| XR_001738862.1:n.1227+18T>G | ||
| XR_426989.3:n.1227+18T>G | ||
| XR_939699.3:n.1227+18T>G | ||
| NM_001006657.2:c.1194+18T>G MANE Plus Clinical | NP_001006658.1:n.1194+18T>G | |
| NM_020779.4:c.1194+18T>G MANE Select | NP_065830.2:n.1194+18T>G |