Linked Data
ClinVar Variation Id:
1674476
ClinVar RCV Id:
RCV002204377
dbSNP Id:
rs930841801
gnomAD v2:
9-138641959-C-T
gnomAD v3:
9-135750113-C-T
gnomAD v4:
9-135750113-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135750113C>T , CM000671.2:g.135750113C>T | GRCh38 |
| NC_000009.11:g.138641959C>T , CM000671.1:g.138641959C>T | GRCh37 |
| NC_000009.10:g.137781780C>T | NCBI36 |
| NG_033070.1:g.52929C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.270C>T MANE Select | ENSP00000360822.2:p.Phe90= | |
| ENST00000637018.1:n.75C>T | ||
| ENST00000638123.1:n.5C>T | ||
| ENST00000674572.1:c.111C>T | ENSP00000501742.1:p.Phe37= | |
| ENST00000675090.1:c.18C>T | ENSP00000501833.1:p.Phe6= | |
| ENST00000675399.1:c.18C>T | ENSP00000501932.1:p.Phe6= | |
| ENST00000676421.1:c.18C>T | ENSP00000502322.1:p.Phe6= | |
| ENST00000263604.5:c.171C>T | ENSP00000263604.4:p.Phe57= | |
| ENST00000371757.6:c.270C>T | ENSP00000360822.2:p.Phe90= | |
| ENST00000460750.5:c.270C>T | ENSP00000418777.1:p.Phe90= | |
| ENST00000473941.5:c.111C>T | ENSP00000420764.1:p.Phe37= | |
| ENST00000486577.6:c.153C>T | ENSP00000417578.3:p.Phe51= | |
| ENST00000487664.5:c.270C>T | ENSP00000417851.2:p.Phe90= | |
| ENST00000488444.6:c.213C>T | ENSP00000419007.3:p.Phe71= | |
| ENST00000490355.6:c.213C>T | ENSP00000418003.3:p.Phe71= | |
| ENST00000491806.6:c.213C>T | ENSP00000419086.3:p.Phe71= | |
| ENST00000628528.2:c.126C>T | ENSP00000486374.1:p.Phe42= | |
| ENST00000630792.2:c.111C>T | ENSP00000486486.1:p.Phe37= | |
| ENST00000631073.2:c.213C>T | ENSP00000486130.1:p.Phe71= | |
| NM_001272003.1:c.126C>T | NP_001258932.1:p.Phe42= | |
| NM_020822.2:c.270C>T | NP_065873.2:p.Phe90= | |
| XM_011518877.1:c.405C>T | XP_011517179.1:p.Phe135= | |
| XM_011518878.1:c.405C>T | XP_011517180.1:p.Phe135= | |
| XM_011518879.1:c.405C>T | XP_011517181.1:p.Phe135= | |
| XM_011518880.1:c.171C>T | XP_011517182.1:p.Phe57= | |
| XM_011518877.3:c.405C>T | XP_011517179.1:p.Phe135= | |
| XM_011518878.3:c.405C>T | XP_011517180.1:p.Phe135= | |
| XM_011518879.3:c.405C>T | XP_011517181.1:p.Phe135= | |
| XM_017014931.1:c.295C>T | XP_016870420.1:p.Leu99= | |
| XM_017014932.1:c.18C>T | XP_016870421.1:p.Phe6= | |
| XM_017014933.1:c.-150C>T | XP_016870422.1:n.-150C>T | |
| XM_024447617.1:c.-250C>T | XP_024303385.1:n.-250C>T | |
| XM_024447618.1:c.-250C>T | XP_024303386.1:n.-250C>T | |
| NM_020822.3:c.270C>T MANE Select | NP_065873.2:p.Phe90= | |
| NM_001272003.2:c.126C>T | NP_001258932.1:p.Phe42= |