Linked Data
ClinVar Variation Id:
2948818
ClinVar RCV Id:
RCV003809592
dbSNP Id:
rs1832640435
gnomAD v3:
9-135770046-C-A
gnomAD v4:
9-135770046-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135770046C>A , CM000671.2:g.135770046C>A | GRCh38 |
| NC_000009.11:g.138661892C>A , CM000671.1:g.138661892C>A | GRCh37 |
| NC_000009.10:g.137801713C>A | NCBI36 |
| NG_033070.1:g.72862C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1610C>A MANE Select | ENSP00000360822.2:p.Ser537Tyr | |
| ENST00000674572.1:c.1451C>A | ENSP00000501742.1:p.Ser484Tyr | |
| ENST00000675090.1:c.1358C>A | ENSP00000501833.1:p.Ser453Tyr | |
| ENST00000675399.1:c.1358C>A | ENSP00000501932.1:p.Ser453Tyr | |
| ENST00000676421.1:c.1367C>A | ENSP00000502322.1:p.Ser456Tyr | |
| ENST00000263604.5:c.1511C>A | ENSP00000263604.4:p.Ser504Tyr | |
| ENST00000371757.6:c.1610C>A | ENSP00000360822.2:p.Ser537Tyr | |
| ENST00000460750.5:c.*1220C>A | ENSP00000418777.1:n.*1220C>A | |
| ENST00000486577.6:c.1493C>A | ENSP00000417578.3:p.Ser498Tyr | |
| ENST00000487664.5:c.1610C>A | ENSP00000417851.2:p.Ser537Tyr | |
| ENST00000488444.6:c.1553C>A | ENSP00000419007.3:p.Ser518Tyr | |
| ENST00000490355.6:c.1553C>A | ENSP00000418003.3:p.Ser518Tyr | |
| ENST00000490363.3:n.1429C>A | ||
| ENST00000491806.6:c.1553C>A | ENSP00000419086.3:p.Ser518Tyr | |
| ENST00000628528.2:c.1475C>A | ENSP00000486374.1:p.Ser492Tyr | |
| ENST00000630792.2:c.1451C>A | ENSP00000486486.1:p.Ser484Tyr | |
| ENST00000631073.2:c.1553C>A | ENSP00000486130.1:p.Ser518Tyr | |
| NM_001272003.1:c.1475C>A | NP_001258932.1:p.Ser492Tyr | |
| NM_020822.2:c.1610C>A | NP_065873.2:p.Ser537Tyr | |
| XM_011518877.1:c.1745C>A | XP_011517179.1:p.Ser582Tyr | |
| XM_011518878.1:c.1754C>A | XP_011517180.1:p.Ser585Tyr | |
| XM_011518879.1:c.1745C>A | XP_011517181.1:p.Ser582Tyr | |
| XM_011518880.1:c.1511C>A | XP_011517182.1:p.Ser504Tyr | |
| XM_011518881.1:c.1100C>A | XP_011517183.1:p.Ser367Tyr | |
| XM_011518877.3:c.1745C>A | XP_011517179.1:p.Ser582Tyr | |
| XM_011518878.3:c.1754C>A | XP_011517180.1:p.Ser585Tyr | |
| XM_011518879.3:c.1745C>A | XP_011517181.1:p.Ser582Tyr | |
| XM_011518881.3:c.1100C>A | XP_011517183.1:p.Ser367Tyr | |
| XM_017014931.1:c.1544C>A | XP_016870420.1:p.Ser515Tyr | |
| XM_017014932.1:c.1367C>A | XP_016870421.1:p.Ser456Tyr | |
| XM_017014933.1:c.1100C>A | XP_016870422.1:p.Ser367Tyr | |
| XM_024447617.1:c.1100C>A | XP_024303385.1:p.Ser367Tyr | |
| XM_024447618.1:c.1100C>A | XP_024303386.1:p.Ser367Tyr | |
| NM_020822.3:c.1610C>A MANE Select | NP_065873.2:p.Ser537Tyr | |
| NM_001272003.2:c.1475C>A | NP_001258932.1:p.Ser492Tyr |