Linked Data
ClinVar Variation Id:
3077052
ClinVar RCV Id:
RCV004374828
dbSNP Id:
rs533647702
ExAC:
1:207697066 G / A
gnomAD v2:
1-207697066-G-A
gnomAD v3:
1-207523721-G-A
gnomAD v4:
1-207523721-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207523721G>A , CM000663.2:g.207523721G>A | GRCh38 |
| NC_000001.10:g.207697066G>A , CM000663.1:g.207697066G>A | GRCh37 |
| NC_000001.9:g.205763689G>A | NCBI36 |
| NG_007481.1:g.32594G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367049.9:c.598G>A MANE Select | ENSP00000356016.4:p.Gly200Arg | |
| ENST00000367051.6:c.487+12067G>A | ENSP00000356018.1:n.487+12067G>A | |
| ENST00000367052.6:c.598G>A | ENSP00000356019.1:p.Gly200Arg | |
| ENST00000367053.6:c.598G>A | ENSP00000356020.1:p.Gly200Arg | |
| ENST00000400960.7:c.598G>A | ENSP00000383744.2:p.Gly200Arg | |
| ENST00000367049.8:c.598G>A | ENSP00000356016.4:p.Gly200Arg | |
| ENST00000367050.8:n.719G>A | ||
| ENST00000367051.5:c.487+12067G>A | ENSP00000356018.1:n.487+12067G>A | |
| ENST00000367052.5:c.598G>A | ENSP00000356019.1:p.Gly200Arg | |
| ENST00000367053.5:c.598G>A | ENSP00000356020.1:p.Gly200Arg | |
| ENST00000400960.6:c.598G>A | ENSP00000383744.2:p.Gly200Arg | |
| ENST00000434033.5:n.525G>A | ||
| ENST00000436595.1:n.414+12067G>A | ||
| ENST00000450439.5:n.525G>A | ||
| ENST00000529814.1:c.525G>A | ||
| ENST00000534202.5:c.598G>A | ENSP00000436139.2:p.Gly200Arg | |
| NM_000573.3:c.598G>A | NP_000564.2:p.Gly200Arg | |
| NM_000651.4:c.598G>A | NP_000642.3:p.Gly200Arg | |
| XM_006711166.2:c.613G>A | XP_006711229.1:p.Gly205Arg | |
| XM_011509205.1:c.613G>A | XP_011507507.1:p.Gly205Arg | |
| NM_000651.5:c.598G>A | NP_000642.3:p.Gly200Arg | |
| XM_024453287.1:c.613G>A | XP_024309055.1:p.Gly205Arg | |
| NM_000573.4:c.598G>A | NP_000564.2:p.Gly200Arg | |
| NM_000651.6:c.598G>A MANE Select | NP_000642.3:p.Gly200Arg |