Linked Data
ClinVar Variation Id:
126395
ClinVar RCV Id:
RCV000114336
RCV000255775
RCV000288094
RCV000352411
RCV000778185
RCV000624331
RCV000548694
dbSNP Id:
rs145588689
ExAC:
1:154574541 G / C
gnomAD v2:
1-154574541-G-C
gnomAD v3:
1-154602065-G-C
gnomAD v4:
1-154602065-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154602065G>C , CM000663.2:g.154602065G>C | GRCh38 |
| NC_000001.10:g.154574541G>C , CM000663.1:g.154574541G>C | GRCh37 |
| NC_000001.9:g.152841165G>C | NCBI36 |
| NG_011844.1:g.30897C>G | |
| NG_011844.2:g.34496C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649042.2:c.471C>G | ENSP00000497790.2:n.471C>G | |
| ENST00000649724.2:c.607C>G | ENSP00000497932.2:p.Pro203Ala | |
| ENST00000680270.2:c.607C>G | ENSP00000505532.2:p.Pro203Ala | |
| ENST00000681056.2:c.229C>G | ENSP00000506234.2:p.Pro77Ala | |
| ENST00000368471.8:c.-309C>G | ENSP00000357456.3:n.-309C>G | |
| ENST00000368474.9:c.577C>G MANE Select | ENSP00000357459.4:p.Pro193Ala | |
| ENST00000471068.2:n.574C>G | ||
| ENST00000529168.2:c.577C>G | ENSP00000431794.2:p.Pro193Ala | |
| ENST00000647682.2:n.307C>G | ||
| ENST00000648231.2:c.-309C>G | ENSP00000497555.1:n.-309C>G | |
| ENST00000648311.1:c.-309C>G | ENSP00000498137.1:n.-309C>G | |
| ENST00000648714.2:c.577C>G | ENSP00000497434.2:p.Pro193Ala | |
| ENST00000648871.1:c.-309C>G | ENSP00000497793.1:n.-309C>G | |
| ENST00000649021.1:n.613C>G | ||
| ENST00000649022.2:c.-309C>G | ENSP00000496896.2:n.-309C>G | |
| ENST00000649042.1:c.-309C>G | ENSP00000497790.1:n.-309C>G | |
| ENST00000649408.2:c.577C>G | ENSP00000497386.2:p.Pro193Ala | |
| ENST00000649724.1:c.-309C>G | ENSP00000497932.1:n.-309C>G | |
| ENST00000649749.1:c.-309C>G | ENSP00000497210.1:n.-309C>G | |
| ENST00000679375.1:c.-309C>G | ENSP00000505887.1:n.-309C>G | |
| ENST00000679465.1:n.775C>G | ||
| ENST00000679805.1:n.613C>G | ||
| ENST00000679899.1:c.-309C>G | ENSP00000505996.1:n.-309C>G | |
| ENST00000680270.1:c.-162C>G | ENSP00000505532.1:n.-162C>G | |
| ENST00000680305.1:c.577C>G | ENSP00000506312.1:p.Pro193Ala | |
| ENST00000680472.1:n.616C>G | ||
| ENST00000681056.1:c.-309C>G | ENSP00000506234.1:n.-309C>G | |
| ENST00000681235.1:c.*177C>G | ENSP00000506606.1:n.*177C>G | |
| ENST00000681683.1:c.-309C>G | ENSP00000506666.1:n.-309C>G | |
| ENST00000681786.1:n.775C>G | ||
| ENST00000681901.1:c.*177C>G | ENSP00000504883.1:n.*177C>G | |
| ENST00000368471.7:c.-309C>G | ENSP00000357456.3:n.-309C>G | |
| ENST00000368474.8:c.577C>G | ENSP00000357459.4:p.Pro193Ala | |
| ENST00000463920.5:n.459C>G | ||
| ENST00000529168.1:c.562C>G | ENSP00000431794.1:p.Pro188Ala | |
| NM_001025107.2:c.-309C>G | NP_001020278.1:n.-309C>G | |
| NM_001111.4:c.577C>G | NP_001102.2:p.Pro193Ala | |
| NM_001193495.1:c.-309C>G | NP_001180424.1:n.-309C>G | |
| NM_015840.3:c.577C>G | NP_056655.2:p.Pro193Ala | |
| NM_015841.3:c.577C>G | NP_056656.2:p.Pro193Ala | |
| XM_006711109.1:c.607C>G | XP_006711172.1:p.Pro203Ala | |
| XM_006711111.2:c.-309C>G | XP_006711174.1:n.-309C>G | |
| XM_006711112.1:c.-309C>G | XP_006711175.1:n.-309C>G | |
| XM_006711113.1:c.-309C>G | XP_006711176.1:n.-309C>G | |
| XM_011509060.1:c.706C>G | XP_011507362.1:p.Pro236Ala | |
| XM_011509061.1:c.706C>G | XP_011507363.1:p.Pro236Ala | |
| XM_011509062.1:c.595C>G | XP_011507364.1:p.Pro199Ala | |
| NM_001025107.3:c.-309C>G | NP_001020278.1:n.-309C>G | |
| NM_001111.5:c.577C>G MANE Select | NP_001102.3:p.Pro193Ala | |
| NM_001193495.2:c.-309C>G | NP_001180424.1:n.-309C>G | |
| NM_001365045.1:c.604C>G | NP_001351974.1:p.Pro202Ala | |
| NM_001365046.1:c.-309C>G | NP_001351975.1:n.-309C>G | |
| NM_001365047.1:c.-309C>G | NP_001351976.1:n.-309C>G | |
| NM_001365048.1:c.-309C>G | NP_001351977.1:n.-309C>G | |
| NM_001365049.1:c.-309C>G | NP_001351978.1:n.-309C>G | |
| NM_015840.4:c.577C>G | NP_056655.3:p.Pro193Ala | |
| NM_015841.4:c.577C>G | NP_056656.3:p.Pro193Ala | |
| XM_006711113.2:c.-309C>G | XP_006711176.1:n.-309C>G | |
| XM_011509061.2:c.-309C>G | XP_011507363.2:n.-309C>G | |
| XM_024449674.1:c.706C>G | XP_024305442.1:p.Pro236Ala |