Linked Data
ClinVar Variation Id:
190391
ClinVar RCV Id:
RCV000170529
dbSNP Id:
rs777469885
gnomAD v2:
2-47221495-G-T
gnomAD v3:
2-46994356-G-T
gnomAD v4:
2-46994356-G-T
PubMed:
PMID:24417819
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46994356G>T , CM000664.2:g.46994356G>T | GRCh38 |
| NC_000002.11:g.47221495G>T , CM000664.1:g.47221495G>T | GRCh37 |
| NC_000002.10:g.47074999G>T | NCBI36 |
| NG_034143.1:g.83228G>T | |
| NG_034143.2:g.83228G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.2676G>T | ||
| ENST00000319190.11:c.844-1G>T MANE Select | ENSP00000316699.5:n.844-1G>T | |
| ENST00000319190.9:c.844-1G>T | ENSP00000316699.5:n.844-1G>T | |
| ENST00000394850.6:c.844-1G>T | ENSP00000378320.2:n.844-1G>T | |
| ENST00000409245.5:c.742-1G>T | ENSP00000386307.1:n.742-1G>T | |
| ENST00000409825.5:c.792-1G>T | ||
| ENST00000441914.5:c.843-780G>T | ||
| ENST00000461601.5:n.1169-1G>T | ||
| ENST00000474321.6:n.328-1G>T | ||
| ENST00000484061.5:n.126G>T | ||
| ENST00000491786.5:n.248-1G>T | ||
| NM_001288951.1:c.844-1G>T | NP_001275880.1:n.844-1G>T | |
| NM_001288953.1:c.742-1G>T | NP_001275882.1:n.742-1G>T | |
| NM_001288955.1:c.-61-780G>T | NP_001275884.1:n.-61-780G>T | |
| NM_020458.3:c.844-1G>T | NP_065191.2:n.844-1G>T | |
| XM_005264439.2:c.487-1G>T | XP_005264496.1:n.487-1G>T | |
| XM_011532998.1:c.487-1G>T | XP_011531300.1:n.487-1G>T | |
| XM_011532999.1:c.844-1G>T | XP_011531301.1:n.844-1G>T | |
| XM_011533000.1:c.64-1G>T | XP_011531302.1:n.64-1G>T | |
| XR_939696.1:n.1149-1G>T | ||
| XM_005264439.4:c.487-1G>T | XP_005264496.1:n.487-1G>T | |
| XM_011532998.3:c.487-1G>T | XP_011531300.1:n.487-1G>T | |
| XM_011532999.2:c.844-1G>T | XP_011531301.1:n.844-1G>T | |
| XM_011533000.3:c.64-1G>T | XP_011531302.1:n.64-1G>T | |
| XM_017004524.1:c.844-1G>T | XP_016860013.1:n.844-1G>T | |
| XM_017004525.1:c.676-1G>T | XP_016860014.1:n.676-1G>T | |
| XM_017004526.1:c.844-1G>T | XP_016860015.1:n.844-1G>T | |
| XM_017004529.1:c.844-1G>T | XP_016860018.1:n.844-1G>T | |
| XR_001738853.2:n.1156-1G>T | ||
| XR_001738854.1:n.1155-1G>T | ||
| NM_020458.4:c.844-1G>T MANE Select | NP_065191.2:n.844-1G>T | |
| NM_001288951.2:c.844-1G>T | NP_001275880.1:n.844-1G>T | |
| NM_001288953.2:c.742-1G>T | NP_001275882.1:n.742-1G>T | |
| NM_001288955.2:c.-61-780G>T | NP_001275884.1:n.-61-780G>T |