Linked Data
ClinVar Variation Id:
335450
dbSNP Id:
rs200191563
ExAC:
2:26703817 G / A
gnomAD v2:
2-26703817-G-A
gnomAD v3:
2-26480949-G-A
gnomAD v4:
2-26480949-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26480949G>A , CM000664.2:g.26480949G>A | GRCh38 |
| NC_000002.11:g.26703817G>A , CM000664.1:g.26703817G>A | GRCh37 |
| NC_000002.10:g.26557321G>A | NCBI36 |
| NG_009937.1:g.82750C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1640C>T MANE Select | ENSP00000272371.2:p.Thr547Met | |
| ENST00000272371.6:c.1640C>T | ENSP00000272371.2:p.Thr547Met | |
| ENST00000403946.7:c.1640C>T | ENSP00000385255.3:p.Thr547Met | |
| NM_001287489.1:c.1640C>T | NP_001274418.1:p.Thr547Met | |
| NM_194248.2:c.1640C>T | NP_919224.1:p.Thr547Met | |
| XM_005264644.2:c.1685C>T | XP_005264701.1:p.Thr562Met | |
| XM_011533185.1:c.1685C>T | XP_011531487.1:p.Thr562Met | |
| XM_017005338.1:c.1640C>T | XP_016860827.1:p.Thr547Met | |
| NM_001287489.2:c.1640C>T | NP_001274418.1:p.Thr547Met | |
| NM_194248.3:c.1640C>T MANE Select | NP_919224.1:p.Thr547Met |