Linked Data
ClinVar Variation Id:
742852
ClinVar RCV Id:
RCV001401502
dbSNP Id:
rs1263083880
gnomAD v3:
9-135775331-C-T
gnomAD v4:
9-135775331-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135775331C>T , CM000671.2:g.135775331C>T | GRCh38 |
| NC_000009.11:g.138667177C>T , CM000671.1:g.138667177C>T | GRCh37 |
| NC_000009.10:g.137806998C>T | NCBI36 |
| NG_033070.1:g.78147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.2265C>T MANE Select | ENSP00000360822.2:p.Pro755= | |
| ENST00000674572.1:c.2106C>T | ENSP00000501742.1:p.Pro702= | |
| ENST00000675090.1:c.2013C>T | ENSP00000501833.1:p.Pro671= | |
| ENST00000675399.1:c.2013C>T | ENSP00000501932.1:p.Pro671= | |
| ENST00000676421.1:c.2022C>T | ENSP00000502322.1:p.Pro674= | |
| ENST00000263604.5:c.2166C>T | ENSP00000263604.4:p.Pro722= | |
| ENST00000371757.6:c.2265C>T | ENSP00000360822.2:p.Pro755= | |
| ENST00000460750.5:c.*1875C>T | ENSP00000418777.1:n.*1875C>T | |
| ENST00000486577.6:c.2148C>T | ENSP00000417578.3:p.Pro716= | |
| ENST00000487664.5:c.2265C>T | ENSP00000417851.2:p.Pro755= | |
| ENST00000488444.6:c.2208C>T | ENSP00000419007.3:p.Pro736= | |
| ENST00000490355.6:c.2202C>T | ENSP00000418003.3:p.Pro734= | |
| ENST00000490363.3:n.2084C>T | ||
| ENST00000491806.6:c.2208C>T | ENSP00000419086.3:p.Pro736= | |
| ENST00000628528.2:c.2130C>T | ENSP00000486374.1:p.Pro710= | |
| ENST00000630792.2:c.2100C>T | ENSP00000486486.1:p.Pro700= | |
| ENST00000631073.2:c.2208C>T | ENSP00000486130.1:p.Pro736= | |
| ENST00000631193.1:c.114C>T | ENSP00000486830.1:p.Pro38= | |
| NM_001272003.1:c.2130C>T | NP_001258932.1:p.Pro710= | |
| NM_020822.2:c.2265C>T | NP_065873.2:p.Pro755= | |
| XM_011518877.1:c.2400C>T | XP_011517179.1:p.Pro800= | |
| XM_011518878.1:c.2409C>T | XP_011517180.1:p.Pro803= | |
| XM_011518879.1:c.2400C>T | XP_011517181.1:p.Pro800= | |
| XM_011518880.1:c.2166C>T | XP_011517182.1:p.Pro722= | |
| XM_011518881.1:c.1755C>T | XP_011517183.1:p.Pro585= | |
| XM_011518877.3:c.2400C>T | XP_011517179.1:p.Pro800= | |
| XM_011518878.3:c.2409C>T | XP_011517180.1:p.Pro803= | |
| XM_011518879.3:c.2400C>T | XP_011517181.1:p.Pro800= | |
| XM_011518881.3:c.1755C>T | XP_011517183.1:p.Pro585= | |
| XM_017014931.1:c.2199C>T | XP_016870420.1:p.Pro733= | |
| XM_017014932.1:c.2022C>T | XP_016870421.1:p.Pro674= | |
| XM_017014933.1:c.1755C>T | XP_016870422.1:p.Pro585= | |
| XM_024447617.1:c.1755C>T | XP_024303385.1:p.Pro585= | |
| XM_024447618.1:c.1755C>T | XP_024303386.1:p.Pro585= | |
| NM_020822.3:c.2265C>T MANE Select | NP_065873.2:p.Pro755= | |
| NM_001272003.2:c.2130C>T | NP_001258932.1:p.Pro710= |