Linked Data
ClinVar Variation Id:
390356
dbSNP Id:
rs370155559
ExAC:
9:138664622 C / T
gnomAD v2:
9-138664622-C-T
gnomAD v3:
9-135772776-C-T
gnomAD v4:
9-135772776-C-T
MyVariant Identifiers:
chr9:g.138664622C>T (hg19)
chr9:g.138664622_138664623delinsTG (hg19)
chr9:g.135772776C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135772776C>T , CM000671.2:g.135772776C>T | GRCh38 |
| NC_000009.11:g.138664622C>T , CM000671.1:g.138664622C>T | GRCh37 |
| NC_000009.10:g.137804443C>T | NCBI36 |
| NG_033070.1:g.75592C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371757.7:c.2070C>T MANE Select | ENSP00000360822.2:p.Gly690= | |
| ENST00000674572.1:c.1911C>T | ENSP00000501742.1:p.Gly637= | |
| ENST00000675090.1:c.1818C>T | ENSP00000501833.1:p.Gly606= | |
| ENST00000675399.1:c.1818C>T | ENSP00000501932.1:p.Gly606= | |
| ENST00000676421.1:c.1827C>T | ENSP00000502322.1:p.Gly609= | |
| ENST00000263604.5:c.1971C>T | ENSP00000263604.4:p.Gly657= | |
| ENST00000371757.6:c.2070C>T | ENSP00000360822.2:p.Gly690= | |
| ENST00000460750.5:c.*1680C>T | ENSP00000418777.1:n.*1680C>T | |
| ENST00000486577.6:c.1953C>T | ENSP00000417578.3:p.Gly651= | |
| ENST00000487664.5:c.2070C>T | ENSP00000417851.2:p.Gly690= | |
| ENST00000488444.6:c.2013C>T | ENSP00000419007.3:p.Gly671= | |
| ENST00000490355.6:c.2007C>T | ENSP00000418003.3:p.Gly669= | |
| ENST00000490363.3:n.1889C>T | ||
| ENST00000491806.6:c.2013C>T | ENSP00000419086.3:p.Gly671= | |
| ENST00000628528.2:c.1935C>T | ENSP00000486374.1:p.Gly645= | |
| ENST00000630792.2:c.1905C>T | ENSP00000486486.1:p.Gly635= | |
| ENST00000631073.2:c.2013C>T | ENSP00000486130.1:p.Gly671= | |
| NM_001272003.1:c.1935C>T | NP_001258932.1:p.Gly645= | |
| NM_020822.2:c.2070C>T | NP_065873.2:p.Gly690= | |
| XM_011518877.1:c.2205C>T | XP_011517179.1:p.Gly735= | |
| XM_011518878.1:c.2214C>T | XP_011517180.1:p.Gly738= | |
| XM_011518879.1:c.2205C>T | XP_011517181.1:p.Gly735= | |
| XM_011518880.1:c.1971C>T | XP_011517182.1:p.Gly657= | |
| XM_011518881.1:c.1560C>T | XP_011517183.1:p.Gly520= | |
| XM_011518877.3:c.2205C>T | XP_011517179.1:p.Gly735= | |
| XM_011518878.3:c.2214C>T | XP_011517180.1:p.Gly738= | |
| XM_011518879.3:c.2205C>T | XP_011517181.1:p.Gly735= | |
| XM_011518881.3:c.1560C>T | XP_011517183.1:p.Gly520= | |
| XM_017014931.1:c.2004C>T | XP_016870420.1:p.Gly668= | |
| XM_017014932.1:c.1827C>T | XP_016870421.1:p.Gly609= | |
| XM_017014933.1:c.1560C>T | XP_016870422.1:p.Gly520= | |
| XM_024447617.1:c.1560C>T | XP_024303385.1:p.Gly520= | |
| XM_024447618.1:c.1560C>T | XP_024303386.1:p.Gly520= | |
| NM_020822.3:c.2070C>T MANE Select | NP_065873.2:p.Gly690= | |
| NM_001272003.2:c.1935C>T | NP_001258932.1:p.Gly645= |