Linked Data
ClinVar Variation Id:
474007
dbSNP Id:
rs370325121
ExAC:
1:201058388 A / G
gnomAD v2:
1-201058388-A-G
gnomAD v3:
1-201089260-A-G
gnomAD v4:
1-201089260-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201089260A>G , CM000663.2:g.201089260A>G | GRCh38 |
| NC_000001.10:g.201058388A>G , CM000663.1:g.201058388A>G | GRCh37 |
| NC_000001.9:g.199325011A>G | NCBI36 |
| NG_009816.1:g.28307T>C | |
| NG_009816.2:g.28307T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.898T>C MANE Select | ENSP00000355192.3:p.Trp300Arg | |
| ENST00000679417.1:c.898T>C | ENSP00000506706.1:p.Trp300Arg | |
| ENST00000680059.1:c.898T>C | ENSP00000504944.1:p.Trp300Arg | |
| ENST00000681078.1:c.898T>C | ENSP00000506645.1:p.Trp300Arg | |
| ENST00000681190.1:c.898T>C | ENSP00000506428.1:p.Trp300Arg | |
| ENST00000681874.1:c.898T>C | ENSP00000505162.1:p.Trp300Arg | |
| ENST00000362061.3:c.898T>C | ENSP00000355192.3:p.Trp300Arg | |
| ENST00000367338.7:c.898T>C | ENSP00000356307.3:p.Trp300Arg | |
| NM_000069.2:c.898T>C | NP_000060.2:p.Trp300Arg | |
| XM_005245478.2:c.898T>C | XP_005245535.1:p.Trp300Arg | |
| XM_005245478.3:c.898T>C | XP_005245535.1:p.Trp300Arg | |
| NM_000069.3:c.898T>C MANE Select | NP_000060.2:p.Trp300Arg |