Linked Data
ClinVar Variation Id:
409969
ClinVar RCV Id:
RCV000457554
dbSNP Id:
rs1060502671
gnomAD v4:
1-2228825-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2228825C>T , CM000663.2:g.2228825C>T | GRCh38 |
| NC_000001.10:g.2160264C>T , CM000663.1:g.2160264C>T | GRCh37 |
| NC_000001.9:g.2150124C>T | NCBI36 |
| NG_013084.1:g.5131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704337.1:n.137+1301C>T | ||
| ENST00000378536.5:c.59C>T MANE Select | ENSP00000367797.4:p.Thr20Met | |
| ENST00000378536.4:c.59C>T | ENSP00000367797.4:p.Thr20Met | |
| NM_003036.3:c.59C>T | NP_003027.1:p.Thr20Met | |
| XM_005244775.2:c.59C>T | XP_005244832.1:p.Thr20Met | |
| XM_005244775.3:c.59C>T | XP_005244832.1:p.Thr20Met | |
| NM_003036.4:c.59C>T MANE Select | NP_003027.1:p.Thr20Met |