Linked Data
ClinVar Variation Id:
1407277
ClinVar RCV Id:
RCV001918359
dbSNP Id:
rs748964384
ExAC:
12:52200932 A / T
gnomAD v2:
12-52200932-A-T
gnomAD v3:
12-51807148-A-T
gnomAD v4:
12-51807148-A-T
COSMIC:
COSM86453
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51807148A>T , CM000674.2:g.51807148A>T | GRCh38 |
| NC_000012.11:g.52200932A>T , CM000674.1:g.52200932A>T | GRCh37 |
| NC_000012.10:g.50487199A>T | NCBI36 |
| NG_021180.2:g.220913A>T | |
| NG_021180.3:g.222191A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354534.11:c.5662A>T MANE Plus Clinical | ENSP00000346534.4:p.Thr1888Ser | |
| ENST00000627620.5:c.5662A>T MANE Select | ENSP00000487583.2:p.Thr1888Ser | |
| ENST00000662684.1:c.5662A>T | ENSP00000499636.1:p.Thr1888Ser | |
| ENST00000668547.1:c.5539A>T | ENSP00000499691.1:p.Thr1847Ser | |
| ENST00000354534.10:c.5662A>T | ENSP00000346534.4:p.Thr1888Ser | |
| ENST00000355133.7:c.5539A>T | ENSP00000347255.4:p.Thr1847Ser | |
| ENST00000545061.5:c.5539A>T | ENSP00000440360.1:p.Thr1847Ser | |
| ENST00000599343.5:c.5695A>T | ENSP00000476447.3:p.Thr1899Ser | |
| ENST00000627620.2:c.5662A>T | ENSP00000487583.1:p.Thr1888Ser | |
| NM_001177984.2:c.5539A>T | NP_001171455.1:p.Thr1847Ser | |
| NM_014191.3:c.5662A>T | NP_055006.1:p.Thr1888Ser | |
| XM_006719556.2:c.5662A>T | XP_006719619.1:p.Thr1888Ser | |
| XM_011538650.1:c.5662A>T | XP_011536952.1:p.Thr1888Ser | |
| XM_011538651.1:c.5662A>T | XP_011536953.1:p.Thr1888Ser | |
| NM_001330260.1:c.5662A>T | NP_001317189.1:p.Thr1888Ser | |
| XM_006719556.4:c.5662A>T | XP_006719619.1:p.Thr1888Ser | |
| XM_011538651.3:c.5662A>T | XP_011536953.1:p.Thr1888Ser | |
| XM_017019794.2:c.5662A>T | XP_016875283.1:p.Thr1888Ser | |
| XM_017019795.2:c.5539A>T | XP_016875284.1:p.Thr1847Ser | |
| NM_001330260.2:c.5662A>T MANE Select | NP_001317189.1:p.Thr1888Ser | |
| NM_001369788.1:c.5539A>T | NP_001356717.1:p.Thr1847Ser | |
| NM_014191.4:c.5662A>T MANE Plus Clinical | NP_055006.1:p.Thr1888Ser | |
| NM_001177984.3:c.5539A>T | NP_001171455.1:p.Thr1847Ser |