Linked Data
ClinVar Variation Id:
939299
dbSNP Id:
rs774205482
ExAC:
1:2337978 G / A
gnomAD v2:
1-2337978-G-A
gnomAD v3:
1-2406539-G-A
gnomAD v4:
1-2406539-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406539G>A , CM000663.2:g.2406539G>A | GRCh38 |
| NC_000001.10:g.2337978G>A , CM000663.1:g.2337978G>A | GRCh37 |
| NC_000001.9:g.2327838G>A | NCBI36 |
| NG_008342.1:g.11033C>T | |
| NG_016128.1:g.19765G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.917C>T | ENSP00000288774.3:p.Thr306Met | |
| ENST00000447513.7:c.857C>T MANE Select | ENSP00000407922.2:p.Thr286Met | |
| ENST00000650293.1:c.811C>T | ||
| ENST00000288774.7:c.917C>T | ENSP00000288774.3:p.Thr306Met | |
| ENST00000447513.6:c.857C>T | ENSP00000407922.2:p.Thr286Met | |
| ENST00000507596.5:c.857C>T | ENSP00000424291.1:p.Thr286Met | |
| ENST00000510434.1:c.*223C>T | ENSP00000423051.1:n.*223C>T | |
| NM_002617.3:c.857C>T | NP_002608.1:p.Thr286Met | |
| NM_153818.1:c.917C>T | NP_722540.1:p.Thr306Met | |
| XM_011541573.1:c.914C>T | XP_011539875.1:p.Thr305Met | |
| XM_011541574.1:c.482C>T | XP_011539876.1:p.Thr161Met | |
| XM_011541575.1:c.482C>T | XP_011539877.1:p.Thr161Met | |
| XR_946666.1:n.973C>T | ||
| XR_946666.2:n.922C>T | ||
| NM_001374425.1:c.914C>T | NP_001361354.1:p.Thr305Met | |
| NM_001374426.1:c.482C>T | NP_001361355.1:p.Thr161Met | |
| NM_001374427.1:c.425C>T | NP_001361356.1:p.Thr142Met | |
| NM_002617.4:c.857C>T MANE Select | NP_002608.1:p.Thr286Met | |
| NM_153818.2:c.917C>T | NP_722540.1:p.Thr306Met | |
| NR_164636.1:n.972C>T |