ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108896634G>A , CM000671.2:g.108896634G>A | GRCh38 |
| NC_000009.11:g.111658914G>A , CM000671.1:g.111658914G>A | GRCh37 |
| NC_000009.10:g.110698735G>A | NCBI36 |
| NG_008788.1:g.42695C>T , LRG_251:g.42695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.2598C>T MANE Select | ENSP00000363779.5:p.Pro866= | |
| ENST00000495759.6:c.*1208C>T | ENSP00000433514.2:n.*1208C>T | |
| ENST00000674535.1:c.2598C>T | ENSP00000502142.1:p.Pro866= | |
| ENST00000674704.1:n.5683C>T | ||
| ENST00000674836.1:n.3211C>T | ||
| ENST00000674890.1:c.2598C>T | ENSP00000501870.1:p.Pro866= | |
| ENST00000674938.1:c.2256C>T | ENSP00000502427.1:p.Pro752= | |
| ENST00000674948.1:c.2256C>T | ENSP00000501602.1:p.Pro752= | |
| ENST00000675052.1:c.2598C>T | ENSP00000502664.1:p.Pro866= | |
| ENST00000675078.1:c.2598C>T | ENSP00000501549.1:p.Pro866= | |
| ENST00000675215.1:c.*1822C>T | ENSP00000502558.1:n.*1822C>T | |
| ENST00000675233.1:n.4425C>T | ||
| ENST00000675321.1:c.2598C>T | ENSP00000502751.1:p.Pro866= | |
| ENST00000675325.1:n.4555C>T | ||
| ENST00000675335.1:c.2629C>T | ENSP00000502182.1:n.2629C>T | |
| ENST00000675400.1:n.4333C>T | ||
| ENST00000675406.1:c.2598C>T | ENSP00000501893.1:p.Pro866= | |
| ENST00000675458.1:c.2691C>T | ENSP00000501754.1:n.2691C>T | |
| ENST00000675507.1:n.4394C>T | ||
| ENST00000675535.1:c.*225C>T | ENSP00000501667.1:n.*225C>T | |
| ENST00000675566.1:n.4456C>T | ||
| ENST00000675602.1:n.5646C>T | ||
| ENST00000675647.1:n.2903C>T | ||
| ENST00000675711.1:c.2598C>T | ENSP00000502485.1:p.Pro866= | |
| ENST00000675727.1:c.2598C>T | ENSP00000501722.1:p.Pro866= | |
| ENST00000675748.1:n.4232C>T | ||
| ENST00000675765.1:c.2660C>T | ENSP00000502640.1:p.Pro887Leu | |
| ENST00000675825.1:c.2598C>T | ENSP00000502632.1:p.Pro866= | |
| ENST00000675877.1:n.2903C>T | ||
| ENST00000675893.1:c.*3667C>T | ENSP00000502001.1:n.*3667C>T | |
| ENST00000675943.1:n.6213C>T | ||
| ENST00000675979.1:c.*1841C>T | ENSP00000502208.1:n.*1841C>T | |
| ENST00000676044.1:c.*258C>T | ENSP00000502378.1:n.*258C>T | |
| ENST00000676086.1:n.4383C>T | ||
| ENST00000676121.1:n.4426C>T | ||
| ENST00000676237.1:c.2499C>T | ENSP00000501828.1:p.Pro833= | |
| ENST00000676416.1:c.2256C>T | ENSP00000501660.1:p.Pro752= | |
| ENST00000676424.1:n.4394C>T | ||
| ENST00000676429.1:n.7067C>T | ||
| ENST00000374647.9:c.2598C>T | ENSP00000363779.5:p.Pro866= | |
| ENST00000537196.1:c.1551C>T | ENSP00000439367.1:p.Pro517= | |
| NM_003640.3:c.2598C>T , LRG_251t1:c.2598C>T | NP_003631.2:p.Pro866= | |
| XM_005252285.2:c.2256C>T | XP_005252342.1:p.Pro752= | |
| XM_011519136.1:c.2598C>T | XP_011517438.1:p.Pro866= | |
| XM_011519137.1:c.2256C>T | XP_011517439.1:p.Pro752= | |
| XR_929859.1:n.2976C>T | ||
| NM_001318360.1:c.2256C>T | NP_001305289.1:p.Pro752= | |
| NM_001330749.1:c.1551C>T | NP_001317678.1:p.Pro517= | |
| NM_003640.4:c.2598C>T | NP_003631.2:p.Pro866= | |
| XM_011519136.2:c.2598C>T | XP_011517438.1:p.Pro866= | |
| XR_929859.3:n.2987C>T | ||
| NM_003640.5:c.2598C>T MANE Select | NP_003631.2:p.Pro866= | |
| NM_001318360.2:c.2256C>T | NP_001305289.1:p.Pro752= | |
| NM_001330749.2:c.1551C>T | NP_001317678.1:p.Pro517= |