Linked Data
ClinVar Variation Id:
1369200
ClinVar RCV Id:
RCV001870516
dbSNP Id:
rs1313399962
gnomAD v2:
1-154580476-G-C
gnomAD v4:
1-154608000-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154608000G>C , CM000663.2:g.154608000G>C | GRCh38 |
| NC_000001.10:g.154580476G>C , CM000663.1:g.154580476G>C | GRCh37 |
| NC_000001.9:g.152847100G>C | NCBI36 |
| NG_011844.1:g.24962C>G | |
| NG_011844.2:g.28561C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649042.2:c.46-5374C>G | ENSP00000497790.2:n.46-5374C>G | |
| ENST00000649724.2:c.46-5374C>G | ENSP00000497932.2:n.46-5374C>G | |
| ENST00000680270.2:c.46-5374C>G | ENSP00000505532.2:n.46-5374C>G | |
| ENST00000681056.2:c.46-5752C>G | ENSP00000506234.2:n.46-5752C>G | |
| ENST00000368471.8:c.-870-5374C>G | ENSP00000357456.3:n.-870-5374C>G | |
| ENST00000368474.9:c.7C>G MANE Select | ENSP00000357459.4:p.Pro3Ala | |
| ENST00000471068.2:n.149-5374C>G | ||
| ENST00000529168.2:c.7C>G | ENSP00000431794.2:p.Pro3Ala | |
| ENST00000647682.2:n.115C>G | ||
| ENST00000648231.2:c.-1250C>G | ENSP00000497555.1:n.-1250C>G | |
| ENST00000648311.1:c.-870-5374C>G | ENSP00000498137.1:n.-870-5374C>G | |
| ENST00000648714.2:c.7C>G | ENSP00000497434.2:p.Pro3Ala | |
| ENST00000648871.1:c.-493+751C>G | ENSP00000497793.1:n.-493+751C>G | |
| ENST00000649021.1:n.52-5374C>G | ||
| ENST00000649022.2:c.-870-5374C>G | ENSP00000496896.2:n.-870-5374C>G | |
| ENST00000649042.1:c.-734-5374C>G | ENSP00000497790.1:n.-734-5374C>G | |
| ENST00000649408.2:c.7C>G | ENSP00000497386.2:p.Pro3Ala | |
| ENST00000649724.1:c.-870-5374C>G | ENSP00000497932.1:n.-870-5374C>G | |
| ENST00000649749.1:c.-871+751C>G | ENSP00000497210.1:n.-871+751C>G | |
| ENST00000679375.1:c.-492-5752C>G | ENSP00000505887.1:n.-492-5752C>G | |
| ENST00000679465.1:n.205C>G | ||
| ENST00000679805.1:n.52-5374C>G | ||
| ENST00000679899.1:c.-870-5374C>G | ENSP00000505996.1:n.-870-5374C>G | |
| ENST00000680270.1:c.-723-5374C>G | ENSP00000505532.1:n.-723-5374C>G | |
| ENST00000680305.1:c.7C>G | ENSP00000506312.1:p.Pro3Ala | |
| ENST00000680472.1:n.55-5374C>G | ||
| ENST00000681056.1:c.-492-5752C>G | ENSP00000506234.1:n.-492-5752C>G | |
| ENST00000681235.1:c.7C>G | ENSP00000506606.1:p.Pro3Ala | |
| ENST00000681683.1:c.-734-5374C>G | ENSP00000506666.1:n.-734-5374C>G | |
| ENST00000681786.1:n.205C>G | ||
| ENST00000681901.1:c.7C>G | ENSP00000504883.1:p.Pro3Ala | |
| ENST00000368471.7:c.-870-5374C>G | ENSP00000357456.3:n.-870-5374C>G | |
| ENST00000368474.8:c.7C>G | ENSP00000357459.4:p.Pro3Ala | |
| ENST00000463920.5:n.34-5374C>G | ||
| ENST00000471068.1:n.47-5374C>G | ||
| ENST00000494866.1:n.59-5374C>G | ||
| ENST00000526905.1:n.62+751C>G | ||
| NM_001025107.2:c.-870-5374C>G | NP_001020278.1:n.-870-5374C>G | |
| NM_001111.4:c.7C>G | NP_001102.2:p.Pro3Ala | |
| NM_015840.3:c.7C>G | NP_056655.2:p.Pro3Ala | |
| NM_015841.3:c.7C>G | NP_056656.2:p.Pro3Ala | |
| XM_006711109.1:c.46-5374C>G | XP_006711172.1:n.46-5374C>G | |
| XM_006711111.2:c.-743C>G | XP_006711174.1:n.-743C>G | |
| XM_006711112.1:c.-734-5374C>G | XP_006711175.1:n.-734-5374C>G | |
| XM_006711113.1:c.-734-5374C>G | XP_006711176.1:n.-734-5374C>G | |
| XM_011509060.1:c.145-5374C>G | XP_011507362.1:n.145-5374C>G | |
| XM_011509061.1:c.145-5374C>G | XP_011507363.1:n.145-5374C>G | |
| XM_011509062.1:c.34-5374C>G | XP_011507364.1:n.34-5374C>G | |
| NM_001025107.3:c.-870-5374C>G | NP_001020278.1:n.-870-5374C>G | |
| NM_001111.5:c.7C>G MANE Select | NP_001102.3:p.Pro3Ala | |
| NM_001365045.1:c.43-5374C>G | NP_001351974.1:n.43-5374C>G | |
| NM_001365046.1:c.-734-5374C>G | NP_001351975.1:n.-734-5374C>G | |
| NM_001365047.1:c.-743C>G | NP_001351976.1:n.-743C>G | |
| NM_001365048.1:c.-871+751C>G | NP_001351977.1:n.-871+751C>G | |
| NM_001365049.1:c.-743C>G | NP_001351978.1:n.-743C>G | |
| NM_015840.4:c.7C>G | NP_056655.3:p.Pro3Ala | |
| NM_015841.4:c.7C>G | NP_056656.3:p.Pro3Ala | |
| XM_006711113.2:c.-734-5374C>G | XP_006711176.1:n.-734-5374C>G | |
| XM_011509061.2:c.-870-5374C>G | XP_011507363.2:n.-870-5374C>G | |
| XM_024449674.1:c.145-5374C>G | XP_024305442.1:n.145-5374C>G |