Linked Data
ClinVar Variation Id:
5793
dbSNP Id:
rs79987078
ExAC:
19:33355112 G / A
gnomAD v2:
19-33355112-G-A
gnomAD v3:
19-32864206-G-A
gnomAD v4:
19-32864206-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32864206G>A , CM000681.2:g.32864206G>A | GRCh38 |
| NC_000019.9:g.33355112G>A , CM000681.1:g.33355112G>A | GRCh37 |
| NC_000019.8:g.38046952G>A | NCBI36 |
| NG_008258.1:g.10572C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000023064.9:c.368C>T MANE Select | ENSP00000023064.3:p.Thr123Met | |
| ENST00000023064.8:c.368C>T | ENSP00000023064.3:p.Thr123Met | |
| ENST00000587772.1:c.368C>T | ENSP00000468439.1:p.Thr123Met | |
| ENST00000589659.1:n.313C>T | ||
| ENST00000590341.5:c.368C>T | ENSP00000464822.1:p.Thr123Met | |
| ENST00000590465.5:c.*100C>T | ENSP00000468076.1:n.*100C>T | |
| ENST00000592232.5:c.*100C>T | ENSP00000465563.1:n.*100C>T | |
| NM_001126335.1:c.368C>T | NP_001119807.1:p.Thr123Met | |
| NM_001243036.1:c.368C>T | NP_001229965.1:p.Thr123Met | |
| NM_014270.4:c.368C>T | NP_055085.1:p.Thr123Met | |
| XM_006722992.1:c.-88C>T | XP_006723055.1:n.-88C>T | |
| XM_011526402.1:c.368C>T | XP_011524704.1:p.Thr123Met | |
| XM_011526402.3:c.368C>T | XP_011524704.1:p.Thr123Met | |
| XM_017026230.1:c.104C>T | XP_016881719.1:p.Thr35Met | |
| XM_024451334.1:c.-675C>T | XP_024307102.1:n.-675C>T | |
| NM_014270.5:c.368C>T MANE Select | NP_055085.1:p.Thr123Met | |
| NM_001126335.2:c.368C>T | NP_001119807.1:p.Thr123Met | |
| NM_001243036.2:c.368C>T | NP_001229965.1:p.Thr123Met |