Linked Data
ClinVar Variation Id:
190392
ClinVar RCV Id:
RCV000170530
dbSNP Id:
rs876657392
gnomAD v2:
2-47233778-A-G
gnomAD v4:
2-47006639-A-G
PubMed:
PMID:24417819
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47006639A>G , CM000664.2:g.47006639A>G | GRCh38 |
| NC_000002.11:g.47233778A>G , CM000664.1:g.47233778A>G | GRCh37 |
| NC_000002.10:g.47087282A>G | NCBI36 |
| NG_034143.1:g.95511A>G | |
| NG_034143.2:g.95511A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.3037-2A>G | ||
| ENST00000319190.11:c.1204-2A>G MANE Select | ENSP00000316699.5:n.1204-2A>G | |
| ENST00000319190.9:c.1204-2A>G | ENSP00000316699.5:n.1204-2A>G | |
| ENST00000394850.6:c.1204-2A>G | ENSP00000378320.2:n.1204-2A>G | |
| ENST00000409245.5:c.1102-2A>G | ENSP00000386307.1:n.1102-2A>G | |
| ENST00000409825.5:c.1152-2A>G | ||
| ENST00000440051.1:c.129-2A>G | ||
| ENST00000441914.5:c.1045-2A>G | ||
| ENST00000461601.5:n.1529-2A>G | ||
| ENST00000484061.5:n.487-2A>G | ||
| ENST00000491786.5:n.608-2A>G | ||
| NM_001288951.1:c.1204-2A>G | NP_001275880.1:n.1204-2A>G | |
| NM_001288953.1:c.1102-2A>G | NP_001275882.1:n.1102-2A>G | |
| NM_001288955.1:c.142-2A>G | NP_001275884.1:n.142-2A>G | |
| NM_020458.3:c.1204-2A>G | NP_065191.2:n.1204-2A>G | |
| XM_005264439.2:c.847-2A>G | XP_005264496.1:n.847-2A>G | |
| XM_011532998.1:c.847-2A>G | XP_011531300.1:n.847-2A>G | |
| XM_011532999.1:c.1204-2A>G | XP_011531301.1:n.1204-2A>G | |
| XM_011533000.1:c.424-2A>G | XP_011531302.1:n.424-2A>G | |
| XM_011533001.1:c.157-2A>G | XP_011531303.1:n.157-2A>G | |
| XR_939696.1:n.1509-2A>G | ||
| XM_005264439.4:c.847-2A>G | XP_005264496.1:n.847-2A>G | |
| XM_011532998.3:c.847-2A>G | XP_011531300.1:n.847-2A>G | |
| XM_011532999.2:c.1204-2A>G | XP_011531301.1:n.1204-2A>G | |
| XM_011533000.3:c.424-2A>G | XP_011531302.1:n.424-2A>G | |
| XM_011533001.3:c.157-2A>G | XP_011531303.1:n.157-2A>G | |
| XM_017004524.1:c.1204-2A>G | XP_016860013.1:n.1204-2A>G | |
| XM_017004525.1:c.1036-2A>G | XP_016860014.1:n.1036-2A>G | |
| XM_017004526.1:c.1204-2A>G | XP_016860015.1:n.1204-2A>G | |
| XM_017004529.1:c.1204-2A>G | XP_016860018.1:n.1204-2A>G | |
| XM_024453013.1:c.169-2A>G | XP_024308781.1:n.169-2A>G | |
| XR_001738853.2:n.1516-2A>G | ||
| XR_001738854.1:n.1515-2A>G | ||
| NM_020458.4:c.1204-2A>G MANE Select | NP_065191.2:n.1204-2A>G | |
| NM_001288951.2:c.1204-2A>G | NP_001275880.1:n.1204-2A>G | |
| NM_001288953.2:c.1102-2A>G | NP_001275882.1:n.1102-2A>G | |
| NM_001288955.2:c.142-2A>G | NP_001275884.1:n.142-2A>G |