gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00110635 (SAS)
Genomes Max Group AF
0.00112495 (SAS)
Exomes Max Group AF
0.00106195 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.9423759G>C , CM000682.2:g.9423759G>C | GRCh38 |
| NC_000020.10:g.9404406G>C , CM000682.1:g.9404406G>C | GRCh37 |
| NC_000020.9:g.9352406G>C | NCBI36 |
| NG_032790.1:g.359706G>C | |
| NG_032790.2:g.359706G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278655.9:c.2241G>C | ENSP00000278655.5:p.Pro747= | |
| ENST00000378493.6:c.2295G>C | ENSP00000367754.1:p.Pro765= | |
| ENST00000378501.3:c.2295G>C | ENSP00000367762.2:p.Pro765= | |
| ENST00000414679.7:c.2295G>C | ENSP00000390616.3:p.Pro765= | |
| ENST00000684997.1:c.2295G>C | ENSP00000509144.1:p.Pro765= | |
| ENST00000685110.1:c.2295G>C | ENSP00000510632.1:p.Pro765= | |
| ENST00000685148.1:c.2295G>C | ENSP00000510512.1:p.Pro765= | |
| ENST00000685298.1:c.2331G>C | ENSP00000509390.1:p.Pro777= | |
| ENST00000685310.1:c.2295G>C | ENSP00000510124.1:p.Pro765= | |
| ENST00000685446.1:n.2493G>C | ||
| ENST00000685482.1:c.1842G>C | ENSP00000510734.1:p.Pro614= | |
| ENST00000685568.1:c.2331G>C | ENSP00000508726.1:p.Pro777= | |
| ENST00000685823.1:c.2331G>C | ENSP00000508676.1:p.Pro777= | |
| ENST00000685859.1:c.2295G>C | ENSP00000510302.1:p.Pro765= | |
| ENST00000686117.1:c.2010G>C | ENSP00000509409.1:p.Pro670= | |
| ENST00000686163.1:c.*787G>C | ENSP00000508442.1:n.*787G>C | |
| ENST00000686253.1:c.2241G>C | ENSP00000510690.1:p.Pro747= | |
| ENST00000686313.1:c.2295G>C | ENSP00000508595.1:p.Pro765= | |
| ENST00000686532.1:n.2529G>C | ||
| ENST00000686584.1:c.2295G>C | ENSP00000508467.1:p.Pro765= | |
| ENST00000686871.1:c.2295G>C | ENSP00000510118.1:p.Pro765= | |
| ENST00000686893.1:c.2307G>C | ENSP00000508817.1:p.Pro769= | |
| ENST00000686976.1:c.2295G>C | ENSP00000508600.1:p.Pro765= | |
| ENST00000687147.1:n.1863G>C | ||
| ENST00000687299.1:c.*1301G>C | ENSP00000509641.1:n.*1301G>C | |
| ENST00000687446.1:c.2241G>C | ENSP00000510275.1:p.Pro747= | |
| ENST00000687765.1:c.2295G>C | ENSP00000509321.1:p.Pro765= | |
| ENST00000688325.1:c.2295G>C | ENSP00000509615.1:p.Pro765= | |
| ENST00000688465.1:n.2990G>C | ||
| ENST00000688656.1:c.2295G>C | ENSP00000509912.1:p.Pro765= | |
| ENST00000688837.1:c.2295G>C | ENSP00000509150.1:p.Pro765= | |
| ENST00000689010.1:c.2091G>C | ENSP00000510457.1:p.Pro697= | |
| ENST00000689392.1:c.2347G>C | ENSP00000510662.1:n.2347G>C | |
| ENST00000689910.1:c.2295G>C | ENSP00000508650.1:p.Pro765= | |
| ENST00000689976.1:n.1386G>C | ||
| ENST00000690729.1:c.1992G>C | ENSP00000508624.1:p.Pro664= | |
| ENST00000690960.1:c.2331G>C | ENSP00000509460.1:p.Pro777= | |
| ENST00000691007.1:c.2295G>C | ENSP00000510215.1:p.Pro765= | |
| ENST00000691112.1:c.2166G>C | ENSP00000509265.1:p.Pro722= | |
| ENST00000692085.1:c.2295G>C | ENSP00000510341.1:p.Pro765= | |
| ENST00000692395.1:c.2010G>C | ENSP00000509227.1:p.Pro670= | |
| ENST00000693005.1:c.2295G>C | ENSP00000509597.1:p.Pro765= | |
| ENST00000693090.1:c.2010G>C | ENSP00000510725.1:p.Pro670= | |
| ENST00000693160.1:c.2130G>C | ENSP00000510063.1:p.Pro710= | |
| ENST00000693492.1:c.*1574G>C | ENSP00000509766.1:n.*1574G>C | |
| ENST00000693502.1:c.2136G>C | ENSP00000510444.1:p.Pro712= | |
| ENST00000693544.1:c.2010G>C | ENSP00000509167.1:p.Pro670= | |
| ENST00000693752.1:c.2295G>C | ENSP00000508677.1:p.Pro765= | |
| ENST00000378473.9:c.2331G>C MANE Select | ENSP00000367734.5:p.Pro777= | |
| ENST00000278655.8:c.2295G>C | ENSP00000278655.4:p.Pro765= | |
| ENST00000378473.7:c.2331G>C | ENSP00000367734.3:p.Pro777= | |
| ENST00000378493.5:c.2295G>C | ENSP00000367754.1:p.Pro765= | |
| ENST00000378501.2:c.2295G>C | ENSP00000367762.2:p.Pro765= | |
| ENST00000414679.6:c.2331G>C | ENSP00000390616.2:p.Pro777= | |
| ENST00000464199.5:n.2072G>C | ||
| ENST00000473151.5:n.1986G>C | ||
| ENST00000482123.1:n.2022G>C | ||
| ENST00000492632.5:n.2310G>C | ||
| NM_000933.3:c.2295G>C | NP_000924.3:p.Pro765= | |
| NM_001172646.1:c.2331G>C | NP_001166117.1:p.Pro777= | |
| NM_182797.2:c.2295G>C | NP_877949.2:p.Pro765= | |
| XM_005260724.1:c.2331G>C | XP_005260781.1:p.Pro777= | |
| XM_005260728.1:c.1527G>C | XP_005260785.1:p.Pro509= | |
| XM_006723568.2:c.2331G>C | XP_006723631.1:p.Pro777= | |
| XM_006723569.1:c.2331G>C | XP_006723632.1:p.Pro777= | |
| XM_011529251.1:c.2331G>C | XP_011527553.1:p.Pro777= | |
| XM_011529252.1:c.2295G>C | XP_011527554.1:p.Pro765= | |
| XM_011529253.1:c.2331G>C | XP_011527555.1:p.Pro777= | |
| XM_011529254.1:c.1851G>C | XP_011527556.1:p.Pro617= | |
| XM_005260724.2:c.2331G>C | XP_005260781.1:p.Pro777= | |
| XM_005260728.2:c.1527G>C | XP_005260785.1:p.Pro509= | |
| XM_006723568.3:c.2331G>C | XP_006723631.1:p.Pro777= | |
| XM_006723569.2:c.2331G>C | XP_006723632.1:p.Pro777= | |
| XM_011529254.2:c.1851G>C | XP_011527556.1:p.Pro617= | |
| XM_017027880.1:c.2295G>C | XP_016883369.1:p.Pro765= | |
| XM_017027881.1:c.2295G>C | XP_016883370.1:p.Pro765= | |
| XM_017027882.1:c.2172G>C | XP_016883371.1:p.Pro724= | |
| XM_017027883.1:c.2136G>C | XP_016883372.1:p.Pro712= | |
| XM_017027884.1:c.1992G>C | XP_016883373.1:p.Pro664= | |
| XM_017027886.1:c.1491G>C | XP_016883375.1:p.Pro497= | |
| XM_024451898.1:c.2331G>C | XP_024307666.1:p.Pro777= | |
| XM_024451899.1:c.2331G>C | XP_024307667.1:p.Pro777= | |
| XM_024451900.1:c.2331G>C | XP_024307668.1:p.Pro777= | |
| XM_024451901.1:c.2295G>C | XP_024307669.1:p.Pro765= | |
| XM_024451902.1:c.2295G>C | XP_024307670.1:p.Pro765= | |
| XM_024451903.1:c.2295G>C | XP_024307671.1:p.Pro765= | |
| XM_024451904.1:c.2331G>C | XP_024307672.1:p.Pro777= | |
| XM_024451905.1:c.2295G>C | XP_024307673.1:p.Pro765= | |
| XM_024451906.1:c.2295G>C | XP_024307674.1:p.Pro765= | |
| XM_024451907.1:c.2295G>C | XP_024307675.1:p.Pro765= | |
| XM_024451908.1:c.1992G>C | XP_024307676.1:p.Pro664= | |
| XM_024451909.1:c.1992G>C | XP_024307677.1:p.Pro664= | |
| XM_024451910.1:c.1992G>C | XP_024307678.1:p.Pro664= | |
| NM_000933.4:c.2295G>C | NP_000924.3:p.Pro765= | |
| NM_001377134.1:c.2295G>C | NP_001364063.1:p.Pro765= | |
| NM_001377135.1:c.2295G>C | NP_001364064.1:p.Pro765= | |
| NM_001377136.1:c.2295G>C | NP_001364065.1:p.Pro765= | |
| NM_001377142.1:c.2331G>C MANE Select | NP_001364071.1:p.Pro777= | |
| NM_001377143.1:c.2331G>C | NP_001364072.1:p.Pro777= | |
| NM_182797.3:c.2295G>C | NP_877949.2:p.Pro765= | |
| NM_001172646.2:c.2331G>C | NP_001166117.1:p.Pro777= | |
| NM_001377134.2:c.2295G>C | NP_001364063.1:p.Pro765= |