Linked Data
ClinVar Variation Id:
463739
dbSNP Id:
rs769844369
ExAC:
16:68857343 G / A
gnomAD v2:
16-68857343-G-A
gnomAD v4:
16-68823440-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68823440G>A , CM000678.2:g.68823440G>A | GRCh38 |
| NC_000016.9:g.68857343G>A , CM000678.1:g.68857343G>A | GRCh37 |
| NC_000016.8:g.67414844G>A | NCBI36 |
| NG_008021.1:g.91149G>A , LRG_301:g.91149G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1978G>A MANE Select | ENSP00000261769.4:p.Val660Met | |
| ENST00000261769.9:c.1978G>A | ENSP00000261769.4:p.Val660Met | |
| ENST00000422392.6:c.1795G>A | ENSP00000414946.2:p.Val599Met | |
| ENST00000562118.1:n.196G>A | ||
| ENST00000562836.5:n.2049G>A | ||
| ENST00000566510.5:c.*644G>A | ENSP00000458139.1:n.*644G>A | |
| ENST00000566612.5:c.*218G>A | ENSP00000454782.1:n.*218G>A | |
| ENST00000611625.4:c.2041G>A | ENSP00000481063.1:p.Val681Met | |
| ENST00000612417.4:c.1830+1321G>A | ENSP00000478360.1:n.1830+1321G>A | |
| ENST00000621016.4:c.1865+1286G>A | ENSP00000480664.1:n.1865+1286G>A | |
| NM_004360.3:c.1978G>A , LRG_301t1:c.1978G>A | NP_004351.1:p.Val660Met | |
| XM_011523488.1:c.1243G>A | XP_011521790.1:p.Val415Met | |
| XM_011523489.1:c.1243G>A | XP_011521791.1:p.Val415Met | |
| NM_001317184.1:c.1795G>A | NP_001304113.1:p.Val599Met | |
| NM_001317185.1:c.430G>A | NP_001304114.1:p.Val144Met | |
| NM_001317186.1:c.13G>A | NP_001304115.1:p.Val5Met | |
| NM_004360.4:c.1978G>A | NP_004351.1:p.Val660Met | |
| NM_004360.5:c.1978G>A MANE Select | NP_004351.1:p.Val660Met | |
| NM_001317184.2:c.1795G>A | NP_001304113.1:p.Val599Met | |
| NM_001317185.2:c.430G>A | NP_001304114.1:p.Val144Met | |
| NM_001317186.2:c.13G>A | NP_001304115.1:p.Val5Met |