Linked Data
ClinVar Variation Id:
16279
dbSNP Id:
rs121909627
ExAC:
8:38282208 G / C
gnomAD v2:
8-38282208-G-C
gnomAD v4:
8-38424690-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38424690G>C , CM000670.2:g.38424690G>C | GRCh38 |
| NC_000008.10:g.38282208G>C , CM000670.1:g.38282208G>C | GRCh37 |
| NC_000008.9:g.38401365G>C | NCBI36 |
| NG_007729.1:g.49145C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703405.1:c.749C>G | ENSP00000515291.1:p.Pro250Arg | |
| ENST00000341462.9:c.749C>G | ENSP00000340636.7:p.Pro250Arg | |
| ENST00000425967.8:c.749C>G | ENSP00000393312.4:p.Pro250Arg | |
| ENST00000682770.1:n.474C>G | ||
| ENST00000683276.1:n.1716C>G | ||
| ENST00000683765.1:c.749C>G | ENSP00000507039.1:p.Pro250Arg | |
| ENST00000683795.1:n.1464C>G | ||
| ENST00000683815.1:c.749C>G | ENSP00000507997.1:p.Pro250Arg | |
| ENST00000683948.1:n.1449C>G | ||
| ENST00000684654.1:c.482C>G | ENSP00000507205.1:p.Pro161Arg | |
| ENST00000447712.7:c.755C>G MANE Select | ENSP00000400162.2:p.Pro252Arg | |
| ENST00000649678.1:c.749C>G | ENSP00000497266.1:p.Pro250Arg | |
| ENST00000674189.1:c.*589-2749C>G | ENSP00000501345.1:n.*589-2749C>G | |
| ENST00000674235.1:c.391C>G | ||
| ENST00000674380.1:c.*722C>G | ENSP00000501514.1:n.*722C>G | |
| ENST00000674474.1:n.1015C>G | ||
| ENST00000326324.10:c.482C>G | ENSP00000327229.6:p.Pro161Arg | |
| ENST00000335922.9:c.731C>G | ENSP00000337247.5:p.Pro244Arg | |
| ENST00000341462.8:c.758C>G | ENSP00000340636.6:p.Pro253Arg | |
| ENST00000356207.9:c.488C>G | ENSP00000348537.5:p.Pro163Arg | |
| ENST00000397091.9:c.749C>G | ENSP00000380280.5:p.Pro250Arg | |
| ENST00000397103.5:c.482C>G | ENSP00000380292.1:p.Pro161Arg | |
| ENST00000397108.8:c.749C>G | ENSP00000380297.4:p.Pro250Arg | |
| ENST00000397113.6:c.749C>G | ENSP00000380302.2:p.Pro250Arg | |
| ENST00000425967.7:c.848C>G | ENSP00000393312.3:p.Pro283Arg | |
| ENST00000447712.6:c.755C>G | ENSP00000400162.2:p.Pro252Arg | |
| ENST00000470826.5:n.904C>G | ||
| ENST00000475621.1:n.70C>G | ||
| ENST00000487647.5:c.632C>G | ENSP00000435254.1:n.632C>G | |
| ENST00000496296.5:n.1225C>G | ||
| ENST00000525001.5:c.755C>G | ENSP00000434712.1:p.Pro252Arg | |
| ENST00000526570.5:n.3034C>G | ||
| ENST00000527203.5:n.394C>G | ||
| ENST00000530701.1:n.178-2749C>G | ||
| ENST00000532386.5:n.718C>G | ||
| ENST00000532791.5:c.755C>G | ENSP00000432972.1:p.Pro252Arg | |
| ENST00000533668.5:c.275C>G | ENSP00000434869.1:p.Pro92Arg | |
| ENST00000619564.3:c.482C>G | ENSP00000484553.1:p.Pro161Arg | |
| NM_001174063.1:c.755C>G | NP_001167534.1:p.Pro252Arg | |
| NM_001174064.1:c.731C>G | NP_001167535.1:p.Pro244Arg | |
| NM_001174065.1:c.749C>G | NP_001167536.1:p.Pro250Arg | |
| NM_001174066.1:c.488C>G | NP_001167537.1:p.Pro163Arg | |
| NM_001174067.1:c.848C>G | NP_001167538.1:p.Pro283Arg | |
| NM_015850.3:c.749C>G | NP_056934.2:p.Pro250Arg | |
| NM_023105.2:c.488C>G | NP_075593.1:p.Pro163Arg | |
| NM_023106.2:c.482C>G | NP_075594.1:p.Pro161Arg | |
| NM_023110.2:c.755C>G | NP_075598.2:p.Pro252Arg | |
| XM_006716303.2:c.755C>G | XP_006716366.1:p.Pro252Arg | |
| XM_006716304.1:c.755C>G | XP_006716367.1:p.Pro252Arg | |
| XM_006716305.2:c.755C>G | XP_006716368.1:p.Pro252Arg | |
| XM_006716306.2:c.749C>G | XP_006716369.1:p.Pro250Arg | |
| XM_006716307.1:c.749C>G | XP_006716370.1:p.Pro250Arg | |
| XM_006716309.2:c.731C>G | XP_006716372.1:p.Pro244Arg | |
| XM_006716310.2:c.488C>G | XP_006716373.1:p.Pro163Arg | |
| XM_006716311.1:c.488C>G | XP_006716374.1:p.Pro163Arg | |
| XM_006716312.1:c.488C>G | XP_006716375.1:p.Pro163Arg | |
| XM_006716313.2:c.482C>G | XP_006716376.1:p.Pro161Arg | |
| XM_006716314.1:c.482C>G | XP_006716377.1:p.Pro161Arg | |
| XM_011544443.1:c.854C>G | XP_011542745.1:p.Pro285Arg | |
| XM_011544444.1:c.848C>G | XP_011542746.1:p.Pro283Arg | |
| XM_011544445.1:c.854C>G | XP_011542747.1:p.Pro285Arg | |
| XM_011544446.1:c.854C>G | XP_011542748.1:p.Pro285Arg | |
| XM_011544447.1:c.854C>G | XP_011542749.1:p.Pro285Arg | |
| XM_011544448.1:c.587C>G | XP_011542750.1:p.Pro196Arg | |
| XM_011544449.1:c.581C>G | XP_011542751.1:p.Pro194Arg | |
| XM_011544450.1:c.581C>G | XP_011542752.1:p.Pro194Arg | |
| XM_011544451.1:c.464C>G | XP_011542753.1:p.Pro155Arg | |
| XM_011544452.1:c.848C>G | XP_011542754.1:p.Pro283Arg | |
| NM_001354367.1:c.749C>G | NP_001341296.1:p.Pro250Arg | |
| NM_001354368.1:c.482C>G | NP_001341297.1:p.Pro161Arg | |
| NM_001354369.1:c.749C>G | NP_001341298.1:p.Pro250Arg | |
| NM_001354370.1:c.482C>G | NP_001341299.1:p.Pro161Arg | |
| XM_006716303.3:c.755C>G | XP_006716366.1:p.Pro252Arg | |
| XM_006716310.3:c.488C>G | XP_006716373.1:p.Pro163Arg | |
| XM_006716312.2:c.488C>G | XP_006716375.1:p.Pro163Arg | |
| XM_006716314.2:c.482C>G | XP_006716377.1:p.Pro161Arg | |
| XM_011544443.2:c.854C>G | XP_011542745.1:p.Pro285Arg | |
| XM_011544445.2:c.854C>G | XP_011542747.1:p.Pro285Arg | |
| XM_011544446.2:c.854C>G | XP_011542748.1:p.Pro285Arg | |
| XM_011544447.2:c.854C>G | XP_011542749.1:p.Pro285Arg | |
| XM_011544450.2:c.581C>G | XP_011542752.1:p.Pro194Arg | |
| XM_011544452.2:c.848C>G | XP_011542754.1:p.Pro283Arg | |
| XM_017013219.1:c.848C>G | XP_016868708.1:p.Pro283Arg | |
| XM_017013220.1:c.848C>G | XP_016868709.1:p.Pro283Arg | |
| XM_017013221.1:c.755C>G | XP_016868710.1:p.Pro252Arg | |
| XM_017013222.2:c.755C>G | XP_016868711.1:p.Pro252Arg | |
| XM_017013224.2:c.749C>G | XP_016868713.1:p.Pro250Arg | |
| XM_017013225.2:c.749C>G | XP_016868714.1:p.Pro250Arg | |
| XM_017013226.1:c.587C>G | XP_016868715.1:p.Pro196Arg | |
| XM_017013227.1:c.581C>G | XP_016868716.1:p.Pro194Arg | |
| XM_017013230.1:c.-1446C>G | XP_016868719.1:n.-1446C>G | |
| XM_017013231.1:c.854C>G | XP_016868720.1:p.Pro285Arg | |
| XM_024447097.1:c.731C>G | XP_024302865.1:p.Pro244Arg | |
| XR_001745495.1:n.1003C>G | ||
| XR_001745496.1:n.1003C>G | ||
| NM_001174063.2:c.755C>G | NP_001167534.1:p.Pro252Arg | |
| NM_001174064.2:c.731C>G | NP_001167535.1:p.Pro244Arg | |
| NM_001174065.2:c.749C>G | NP_001167536.1:p.Pro250Arg | |
| NM_001174066.2:c.488C>G | NP_001167537.1:p.Pro163Arg | |
| NM_001354368.2:c.482C>G | NP_001341297.1:p.Pro161Arg | |
| NM_015850.4:c.749C>G | NP_056934.2:p.Pro250Arg | |
| NM_023105.3:c.488C>G | NP_075593.1:p.Pro163Arg | |
| NM_023106.3:c.482C>G | NP_075594.1:p.Pro161Arg | |
| NM_023110.3:c.755C>G MANE Select | NP_075598.2:p.Pro252Arg | |
| NM_001174067.2:c.848C>G | NP_001167538.1:p.Pro283Arg | |
| NM_001354367.2:c.749C>G | NP_001341296.1:p.Pro250Arg | |
| NM_001354369.2:c.749C>G | NP_001341298.1:p.Pro250Arg | |
| NM_001354370.2:c.482C>G | NP_001341299.1:p.Pro161Arg |