Linked Data
ClinVar Variation Id:
444612
ClinVar RCV Id:
RCV000512792
dbSNP Id:
rs369703868
ExAC:
3:74351962 T / C
gnomAD v2:
3-74351962-T-C
gnomAD v3:
3-74302811-T-C
gnomAD v4:
3-74302811-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.74302811T>C , CM000665.2:g.74302811T>C | GRCh38 |
| NC_000003.11:g.74351962T>C , CM000665.1:g.74351962T>C | GRCh37 |
| NC_000003.10:g.74434652T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263665.7:c.1669-4A>G MANE Select | ENSP00000263665.6:n.1669-4A>G | |
| ENST00000263665.6:c.1669-4A>G | ENSP00000263665.6:n.1669-4A>G | |
| NM_020872.2:c.1669-4A>G | NP_065923.1:n.1669-4A>G | |
| XM_005264757.2:c.1669-4A>G | XP_005264814.1:n.1669-4A>G | |
| XM_005264758.2:c.1354-4A>G | XP_005264815.1:n.1354-4A>G | |
| XM_005264759.2:c.526-4A>G | XP_005264816.1:n.526-4A>G | |
| XM_011533768.1:c.1669-4A>G | XP_011532070.1:n.1669-4A>G | |
| XM_011533769.1:c.343-4A>G | XP_011532071.1:n.343-4A>G | |
| XM_005264757.3:c.1669-4A>G | XP_005264814.1:n.1669-4A>G | |
| XM_011533768.2:c.1669-4A>G | XP_011532070.1:n.1669-4A>G | |
| XM_017006507.1:c.1669-4A>G | XP_016861996.1:n.1669-4A>G | |
| XM_017006508.1:c.1495-4A>G | XP_016861997.1:n.1495-4A>G | |
| XM_017006509.1:c.343-4A>G | XP_016861998.1:n.343-4A>G | |
| NM_001393376.1:c.1669-4A>G | NP_001380305.1:n.1669-4A>G | |
| NM_020872.3:c.1669-4A>G MANE Select | NP_065923.1:n.1669-4A>G |