Linked Data
ClinVar Variation Id:
238146
dbSNP Id:
rs200370409
ExAC:
8:30999079 A / T
gnomAD v2:
8-30999079-A-T
gnomAD v3:
8-31141563-A-T
gnomAD v4:
8-31141563-A-T
COSMIC:
COSM1331017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31141563A>T , CM000670.2:g.31141563A>T | GRCh38 |
| NC_000008.10:g.30999079A>T , CM000670.1:g.30999079A>T | GRCh37 |
| NC_000008.9:g.31118621A>T | NCBI36 |
| NG_008870.1:g.113302A>T , LRG_524:g.113302A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.3101A>T MANE Select | ENSP00000298139.5:p.Tyr1034Phe | |
| ENST00000650667.1:c.*2715A>T | ENSP00000498593.1:n.*2715A>T | |
| ENST00000298139.5:c.3101A>T | ENSP00000298139.5:p.Tyr1034Phe | |
| ENST00000521620.5:n.1734A>T | ||
| NM_000553.4:c.3101A>T , LRG_524t1:c.3101A>T | NP_000544.2:p.Tyr1034Phe | |
| XM_011544639.1:c.3020A>T | XP_011542941.1:p.Tyr1007Phe | |
| XM_011544640.1:c.1502A>T | XP_011542942.1:p.Tyr501Phe | |
| XR_949470.1:n.3374A>T | ||
| XR_949471.1:n.3374A>T | ||
| XR_949472.1:n.3374A>T | ||
| NM_000553.5:c.3101A>T | NP_000544.2:p.Tyr1034Phe | |
| XM_011544639.3:c.3020A>T | XP_011542941.1:p.Tyr1007Phe | |
| XM_024447265.1:c.2891A>T | XP_024303033.1:p.Tyr964Phe | |
| XR_949470.3:n.3402A>T | ||
| XR_949471.3:n.3402A>T | ||
| XR_949472.3:n.3402A>T | ||
| NM_000553.6:c.3101A>T MANE Select | NP_000544.2:p.Tyr1034Phe |