Linked Data
ClinVar Variation Id:
1388692
ClinVar RCV Id:
RCV001878022
dbSNP Id:
rs1462685344
gnomAD v2:
17-7919121-C-T
gnomAD v4:
17-8015803-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015803C>T , CM000679.2:g.8015803C>T | GRCh38 |
| NC_000017.10:g.7919121C>T , CM000679.1:g.7919121C>T | GRCh37 |
| NC_000017.9:g.7859846C>T | NCBI36 |
| NG_009092.1:g.18134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.3005C>T MANE Select | ENSP00000254854.4:p.Thr1002Met | |
| ENST00000254854.4:c.3005C>T | ENSP00000254854.4:p.Thr1002Met | |
| NM_000180.3:c.3005C>T | NP_000171.1:p.Thr1002Met | |
| XM_011523816.1:c.3005C>T | XP_011522118.1:p.Thr1002Met | |
| NM_000180.4:c.3005C>T MANE Select | NP_000171.1:p.Thr1002Met |