Linked Data
dbSNP Id:
rs771931121
ExAC:
9:138662238 T / C
gnomAD v2:
9-138662238-T-C
gnomAD v4:
9-135770392-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135770392T>C , CM000671.2:g.135770392T>C | GRCh38 |
| NC_000009.11:g.138662238T>C , CM000671.1:g.138662238T>C | GRCh37 |
| NC_000009.10:g.137802059T>C | NCBI36 |
| NG_033070.1:g.73208T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1714T>C MANE Select | ENSP00000360822.2:p.Phe572Leu | |
| ENST00000674572.1:c.1555T>C | ENSP00000501742.1:p.Phe519Leu | |
| ENST00000675090.1:c.1462T>C | ENSP00000501833.1:p.Phe488Leu | |
| ENST00000675399.1:c.1462T>C | ENSP00000501932.1:p.Phe488Leu | |
| ENST00000676421.1:c.1471T>C | ENSP00000502322.1:p.Phe491Leu | |
| ENST00000263604.5:c.1615T>C | ENSP00000263604.4:p.Phe539Leu | |
| ENST00000371757.6:c.1714T>C | ENSP00000360822.2:p.Phe572Leu | |
| ENST00000460750.5:c.*1324T>C | ENSP00000418777.1:n.*1324T>C | |
| ENST00000486577.6:c.1597T>C | ENSP00000417578.3:p.Phe533Leu | |
| ENST00000487664.5:c.1714T>C | ENSP00000417851.2:p.Phe572Leu | |
| ENST00000488444.6:c.1657T>C | ENSP00000419007.3:p.Phe553Leu | |
| ENST00000490355.6:c.1657T>C | ENSP00000418003.3:p.Phe553Leu | |
| ENST00000490363.3:n.1533T>C | ||
| ENST00000491806.6:c.1657T>C | ENSP00000419086.3:p.Phe553Leu | |
| ENST00000628528.2:c.1579T>C | ENSP00000486374.1:p.Phe527Leu | |
| ENST00000630792.2:c.1555T>C | ENSP00000486486.1:p.Phe519Leu | |
| ENST00000631073.2:c.1657T>C | ENSP00000486130.1:p.Phe553Leu | |
| NM_001272003.1:c.1579T>C | NP_001258932.1:p.Phe527Leu | |
| NM_020822.2:c.1714T>C | NP_065873.2:p.Phe572Leu | |
| XM_011518877.1:c.1849T>C | XP_011517179.1:p.Phe617Leu | |
| XM_011518878.1:c.1858T>C | XP_011517180.1:p.Phe620Leu | |
| XM_011518879.1:c.1849T>C | XP_011517181.1:p.Phe617Leu | |
| XM_011518880.1:c.1615T>C | XP_011517182.1:p.Phe539Leu | |
| XM_011518881.1:c.1204T>C | XP_011517183.1:p.Phe402Leu | |
| XM_011518877.3:c.1849T>C | XP_011517179.1:p.Phe617Leu | |
| XM_011518878.3:c.1858T>C | XP_011517180.1:p.Phe620Leu | |
| XM_011518879.3:c.1849T>C | XP_011517181.1:p.Phe617Leu | |
| XM_011518881.3:c.1204T>C | XP_011517183.1:p.Phe402Leu | |
| XM_017014931.1:c.1648T>C | XP_016870420.1:p.Phe550Leu | |
| XM_017014932.1:c.1471T>C | XP_016870421.1:p.Phe491Leu | |
| XM_017014933.1:c.1204T>C | XP_016870422.1:p.Phe402Leu | |
| XM_024447617.1:c.1204T>C | XP_024303385.1:p.Phe402Leu | |
| XM_024447618.1:c.1204T>C | XP_024303386.1:p.Phe402Leu | |
| NM_020822.3:c.1714T>C MANE Select | NP_065873.2:p.Phe572Leu | |
| NM_001272003.2:c.1579T>C | NP_001258932.1:p.Phe527Leu |