Linked Data
dbSNP Id:
rs374981764
gnomAD v4:
9-135775337-G-T
MyVariant Identifiers:
chr9:g.138667183G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135775337G>T , CM000671.2:g.135775337G>T | GRCh38 |
| NC_000009.11:g.138667183G>T , CM000671.1:g.138667183G>T | GRCh37 |
| NC_000009.10:g.137807004G>T | NCBI36 |
| NG_033070.1:g.78153G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.2271G>T MANE Select | ENSP00000360822.2:p.Ser757= | |
| ENST00000674572.1:c.2112G>T | ENSP00000501742.1:p.Ser704= | |
| ENST00000675090.1:c.2019G>T | ENSP00000501833.1:p.Ser673= | |
| ENST00000675399.1:c.2019G>T | ENSP00000501932.1:p.Ser673= | |
| ENST00000676421.1:c.2028G>T | ENSP00000502322.1:p.Ser676= | |
| ENST00000263604.5:c.2172G>T | ENSP00000263604.4:p.Ser724= | |
| ENST00000371757.6:c.2271G>T | ENSP00000360822.2:p.Ser757= | |
| ENST00000460750.5:c.*1881G>T | ENSP00000418777.1:n.*1881G>T | |
| ENST00000486577.6:c.2154G>T | ENSP00000417578.3:p.Ser718= | |
| ENST00000487664.5:c.2271G>T | ENSP00000417851.2:p.Ser757= | |
| ENST00000488444.6:c.2214G>T | ENSP00000419007.3:p.Ser738= | |
| ENST00000490355.6:c.2208G>T | ENSP00000418003.3:p.Ser736= | |
| ENST00000490363.3:n.2090G>T | ||
| ENST00000491806.6:c.2214G>T | ENSP00000419086.3:p.Ser738= | |
| ENST00000628528.2:c.2136G>T | ENSP00000486374.1:p.Ser712= | |
| ENST00000630792.2:c.2106G>T | ENSP00000486486.1:p.Ser702= | |
| ENST00000631073.2:c.2214G>T | ENSP00000486130.1:p.Ser738= | |
| ENST00000631193.1:c.120G>T | ENSP00000486830.1:p.Ser40= | |
| NM_001272003.1:c.2136G>T | NP_001258932.1:p.Ser712= | |
| NM_020822.2:c.2271G>T | NP_065873.2:p.Ser757= | |
| XM_011518877.1:c.2406G>T | XP_011517179.1:p.Ser802= | |
| XM_011518878.1:c.2415G>T | XP_011517180.1:p.Ser805= | |
| XM_011518879.1:c.2406G>T | XP_011517181.1:p.Ser802= | |
| XM_011518880.1:c.2172G>T | XP_011517182.1:p.Ser724= | |
| XM_011518881.1:c.1761G>T | XP_011517183.1:p.Ser587= | |
| XM_011518877.3:c.2406G>T | XP_011517179.1:p.Ser802= | |
| XM_011518878.3:c.2415G>T | XP_011517180.1:p.Ser805= | |
| XM_011518879.3:c.2406G>T | XP_011517181.1:p.Ser802= | |
| XM_011518881.3:c.1761G>T | XP_011517183.1:p.Ser587= | |
| XM_017014931.1:c.2205G>T | XP_016870420.1:p.Ser735= | |
| XM_017014932.1:c.2028G>T | XP_016870421.1:p.Ser676= | |
| XM_017014933.1:c.1761G>T | XP_016870422.1:p.Ser587= | |
| XM_024447617.1:c.1761G>T | XP_024303385.1:p.Ser587= | |
| XM_024447618.1:c.1761G>T | XP_024303386.1:p.Ser587= | |
| NM_020822.3:c.2271G>T MANE Select | NP_065873.2:p.Ser757= | |
| NM_001272003.2:c.2136G>T | NP_001258932.1:p.Ser712= |