Linked Data
ClinVar Variation Id:
531004
dbSNP Id:
rs146370047
ExAC:
9:101304186 G / A
gnomAD v2:
9-101304186-G-A
gnomAD v3:
9-98541904-G-A
gnomAD v4:
9-98541904-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541904G>A , CM000671.2:g.98541904G>A | GRCh38 |
| NC_000009.11:g.101304186G>A , CM000671.1:g.101304186G>A | GRCh37 |
| NC_000009.10:g.100344007G>A | NCBI36 |
| NG_016426.1:g.172294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.599C>T MANE Select | ENSP00000259455.2:p.Thr200Met | |
| ENST00000637410.1:n.377C>T | ||
| ENST00000637717.1:c.215C>T | ENSP00000490789.1:p.Thr72Met | |
| ENST00000259455.3:c.599C>T | ENSP00000259455.2:p.Thr200Met | |
| ENST00000477471.1:n.386C>T | ||
| ENST00000634227.1:n.373C>T | ||
| NM_005458.7:c.599C>T | NP_005449.5:p.Thr200Met | |
| XM_017015331.2:c.305C>T | XP_016870820.1:p.Thr102Met | |
| NM_005458.8:c.599C>T MANE Select | NP_005449.5:p.Thr200Met |