Linked Data
ClinVar Variation Id:
1979274
ClinVar RCV Id:
RCV002775269
dbSNP Id:
rs16999131
ExAC:
20:52781092 G / A
gnomAD v2:
20-52781092-G-A
gnomAD v3:
20-54164553-G-A
gnomAD v4:
20-54164553-G-A
COSMIC:
COSM1028212
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54164553G>A , CM000682.2:g.54164553G>A | GRCh38 |
| NC_000020.10:g.52781092G>A , CM000682.1:g.52781092G>A | GRCh37 |
| NC_000020.9:g.52214499G>A | NCBI36 |
| NG_008334.1:g.14425C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216862.8:c.743C>T MANE Select | ENSP00000216862.3:p.Thr248Met | |
| ENST00000216862.7:c.743C>T | ENSP00000216862.3:p.Thr248Met | |
| ENST00000395954.3:c.317C>T | ENSP00000379284.3:p.Thr106Met | |
| ENST00000395955.7:c.743C>T | ENSP00000379285.3:p.Thr248Met | |
| NM_000782.4:c.743C>T | NP_000773.2:p.Thr248Met | |
| NM_001128915.1:c.743C>T | NP_001122387.1:p.Thr248Met | |
| XM_005260304.3:c.743C>T | XP_005260361.1:p.Thr248Met | |
| XM_005260304.5:c.743C>T | XP_005260361.1:p.Thr248Met | |
| XM_017027691.2:c.743C>T | XP_016883180.1:p.Thr248Met | |
| XM_017027692.2:c.743C>T | XP_016883181.1:p.Thr248Met | |
| XM_017027693.2:c.743C>T | XP_016883182.1:p.Thr248Met | |
| NM_000782.5:c.743C>T MANE Select | NP_000773.2:p.Thr248Met | |
| NM_001128915.2:c.743C>T | NP_001122387.1:p.Thr248Met |