Linked Data
ClinVar Variation Id:
423836
dbSNP Id:
rs144750655
ExAC:
1:6534226 T / C
gnomAD v2:
1-6534226-T-C
gnomAD v3:
1-6474166-T-C
gnomAD v4:
1-6474166-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6474166T>C , CM000663.2:g.6474166T>C | GRCh38 |
| NC_000001.10:g.6534226T>C , CM000663.1:g.6534226T>C | GRCh37 |
| NC_000001.9:g.6456813T>C | NCBI36 |
| NG_007978.1:g.50844A>G , LRG_262:g.50844A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.440-2A>G | ENSP00000344570.5:n.440-2A>G | |
| ENST00000377728.8:c.440-2A>G MANE Select | ENSP00000366957.3:n.440-2A>G | |
| ENST00000377740.5:c.440-2A>G | ENSP00000366969.4:n.440-2A>G | |
| ENST00000377748.6:c.614-2A>G | ENSP00000366977.2:n.614-2A>G | |
| ENST00000400913.6:c.440-2A>G | ENSP00000383704.1:n.440-2A>G | |
| ENST00000400915.8:c.551-2A>G | ENSP00000383706.4:n.551-2A>G | |
| ENST00000489097.6:n.916-2A>G | ||
| ENST00000535355.6:c.647-2A>G | ENSP00000441445.1:n.647-2A>G | |
| ENST00000537245.6:c.551-2A>G | ENSP00000439625.2:n.551-2A>G | |
| ENST00000673471.2:c.737-2A>G | ENSP00000500749.1:n.737-2A>G | |
| ENST00000674790.1:c.*652-2A>G | ENSP00000502815.1:n.*652-2A>G | |
| ENST00000675123.1:c.440-2A>G | ENSP00000502132.1:n.440-2A>G | |
| ENST00000675548.1:c.*268-2A>G | ENSP00000502684.1:n.*268-2A>G | |
| ENST00000675694.1:c.440-2A>G | ENSP00000501925.1:n.440-2A>G | |
| ENST00000340850.9:c.440-2A>G | ENSP00000344570.5:n.440-2A>G | |
| ENST00000377725.5:c.440-2A>G | ENSP00000366954.1:n.440-2A>G | |
| ENST00000377728.7:c.440-2A>G | ENSP00000366957.3:n.440-2A>G | |
| ENST00000377732.5:c.551-2A>G | ENSP00000366961.1:n.551-2A>G | |
| ENST00000377740.4:c.671-2A>G | ENSP00000366969.3:n.671-2A>G | |
| ENST00000377748.5:c.671-2A>G | ENSP00000366977.1:n.671-2A>G | |
| ENST00000400913.5:c.440-2A>G | ENSP00000383704.1:n.440-2A>G | |
| ENST00000400915.7:c.608-2A>G | ENSP00000383706.3:n.608-2A>G | |
| ENST00000489097.5:n.916-2A>G | ||
| ENST00000535355.5:c.647-2A>G | ENSP00000441445.1:n.647-2A>G | |
| ENST00000537245.5:c.677-2A>G | ENSP00000439625.1:n.677-2A>G | |
| NM_001042663.1:c.608-2A>G | NP_001036128.1:n.608-2A>G | |
| NM_001042664.1:c.440-2A>G | NP_001036129.1:n.440-2A>G | |
| NM_001042665.1:c.440-2A>G | NP_001036130.1:n.440-2A>G | |
| NM_001265592.1:c.677-2A>G | NP_001252521.1:n.677-2A>G | |
| NM_001265593.1:c.647-2A>G | NP_001252522.1:n.647-2A>G | |
| NM_001265594.1:c.440-2A>G | NP_001252523.1:n.440-2A>G | |
| NM_020631.4:c.440-2A>G | NP_065682.2:n.440-2A>G | |
| NM_198681.3:c.671-2A>G | NP_941374.2:n.671-2A>G | |
| NM_001042663.2:c.608-2A>G | NP_001036128.1:n.608-2A>G | |
| NM_001265594.2:c.440-2A>G | NP_001252523.1:n.440-2A>G | |
| NM_020631.5:c.440-2A>G | NP_065682.2:n.440-2A>G | |
| NM_001042663.3:c.551-2A>G | NP_001036128.2:n.551-2A>G | |
| NM_001265592.2:c.551-2A>G | NP_001252521.2:n.551-2A>G | |
| NM_020631.6:c.440-2A>G MANE Select | NP_065682.2:n.440-2A>G | |
| NM_198681.4:c.440-2A>G | NP_941374.3:n.440-2A>G |