Linked Data
ClinVar Variation Id:
3434
ClinVar RCV Id:
RCV000003603
dbSNP Id:
rs121907931
gnomAD v2:
22-50307128-G-A
gnomAD v4:
22-49913480-G-A
COSMIC:
COSM242906
PubMed:
PMID:12217961
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49913480G>A , CM000684.2:g.49913480G>A | GRCh38 |
| NC_000022.10:g.50307128G>A , CM000684.1:g.50307128G>A | GRCh37 |
| NC_000022.9:g.48693132G>A | NCBI36 |
| NG_008927.1:g.9979C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330817.11:c.200C>T MANE Select | ENSP00000333813.5:p.Thr67Met | |
| ENST00000330817.10:c.200C>T | ENSP00000333813.5:p.Thr67Met | |
| NM_024105.3:c.200C>T | NP_077010.1:p.Thr67Met | |
| XM_011530369.1:c.200C>T | XP_011528671.1:p.Thr67Met | |
| XM_011530370.1:c.200C>T | XP_011528672.1:p.Thr67Met | |
| XM_011530371.1:c.200C>T | XP_011528673.1:p.Thr67Met | |
| XM_011530371.2:c.200C>T | XP_011528673.1:p.Thr67Met | |
| XM_017028936.1:c.200C>T | XP_016884425.1:p.Thr67Met | |
| XM_017028937.1:c.200C>T | XP_016884426.1:p.Thr67Met | |
| NM_024105.4:c.200C>T MANE Select | NP_077010.1:p.Thr67Met |