Linked Data
ClinVar Variation Id:
2028299
ClinVar RCV Id:
RCV002876070
dbSNP Id:
rs764504563
ExAC:
9:138641977 C / G
gnomAD v2:
9-138641977-C-G
gnomAD v3:
9-135750131-C-G
gnomAD v4:
9-135750131-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135750131C>G , CM000671.2:g.135750131C>G | GRCh38 |
| NC_000009.11:g.138641977C>G , CM000671.1:g.138641977C>G | GRCh37 |
| NC_000009.10:g.137781798C>G | NCBI36 |
| NG_033070.1:g.52947C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.288C>G MANE Select | ENSP00000360822.2:p.Thr96= | |
| ENST00000637018.1:n.93C>G | ||
| ENST00000638123.1:n.23C>G | ||
| ENST00000674572.1:c.129C>G | ENSP00000501742.1:p.Thr43= | |
| ENST00000675090.1:c.36C>G | ENSP00000501833.1:p.Thr12= | |
| ENST00000675399.1:c.36C>G | ENSP00000501932.1:p.Thr12= | |
| ENST00000676421.1:c.36C>G | ENSP00000502322.1:p.Thr12= | |
| ENST00000263604.5:c.189C>G | ENSP00000263604.4:p.Thr63= | |
| ENST00000371757.6:c.288C>G | ENSP00000360822.2:p.Thr96= | |
| ENST00000460750.5:c.288C>G | ENSP00000418777.1:p.Thr96= | |
| ENST00000473941.5:c.129C>G | ENSP00000420764.1:p.Thr43= | |
| ENST00000486577.6:c.171C>G | ENSP00000417578.3:p.Thr57= | |
| ENST00000487664.5:c.288C>G | ENSP00000417851.2:p.Thr96= | |
| ENST00000488444.6:c.231C>G | ENSP00000419007.3:p.Thr77= | |
| ENST00000490355.6:c.231C>G | ENSP00000418003.3:p.Thr77= | |
| ENST00000491806.6:c.231C>G | ENSP00000419086.3:p.Thr77= | |
| ENST00000628528.2:c.144C>G | ENSP00000486374.1:p.Thr48= | |
| ENST00000630792.2:c.129C>G | ENSP00000486486.1:p.Thr43= | |
| ENST00000631073.2:c.231C>G | ENSP00000486130.1:p.Thr77= | |
| NM_001272003.1:c.144C>G | NP_001258932.1:p.Thr48= | |
| NM_020822.2:c.288C>G | NP_065873.2:p.Thr96= | |
| XM_011518877.1:c.423C>G | XP_011517179.1:p.Thr141= | |
| XM_011518878.1:c.423C>G | XP_011517180.1:p.Thr141= | |
| XM_011518879.1:c.423C>G | XP_011517181.1:p.Thr141= | |
| XM_011518880.1:c.189C>G | XP_011517182.1:p.Thr63= | |
| XM_011518877.3:c.423C>G | XP_011517179.1:p.Thr141= | |
| XM_011518878.3:c.423C>G | XP_011517180.1:p.Thr141= | |
| XM_011518879.3:c.423C>G | XP_011517181.1:p.Thr141= | |
| XM_017014931.1:c.313C>G | XP_016870420.1:p.Leu105Val | |
| XM_017014932.1:c.36C>G | XP_016870421.1:p.Thr12= | |
| XM_017014933.1:c.-132C>G | XP_016870422.1:n.-132C>G | |
| XM_024447617.1:c.-232C>G | XP_024303385.1:n.-232C>G | |
| XM_024447618.1:c.-232C>G | XP_024303386.1:n.-232C>G | |
| NM_020822.3:c.288C>G MANE Select | NP_065873.2:p.Thr96= | |
| NM_001272003.2:c.144C>G | NP_001258932.1:p.Thr48= |