Linked Data
ClinVar Variation Id:
422981
ClinVar RCV Id:
RCV000651220
RCV000729718
RCV001356678
RCV001356834
RCV002481529
RCV002526644
RCV001356134
dbSNP Id:
rs140330831
ExAC:
1:201063146 T / C
gnomAD v2:
1-201063146-T-C
gnomAD v3:
1-201094018-T-C
gnomAD v4:
1-201094018-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201094018T>C , CM000663.2:g.201094018T>C | GRCh38 |
| NC_000001.10:g.201063146T>C , CM000663.1:g.201063146T>C | GRCh37 |
| NC_000001.9:g.199329769T>C | NCBI36 |
| NG_009816.1:g.23549A>G | |
| NG_009816.2:g.23549A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.262A>G MANE Select | ENSP00000355192.3:p.Lys88Glu | |
| ENST00000679417.1:c.262A>G | ENSP00000506706.1:p.Lys88Glu | |
| ENST00000680059.1:c.262A>G | ENSP00000504944.1:p.Lys88Glu | |
| ENST00000681078.1:c.262A>G | ENSP00000506645.1:p.Lys88Glu | |
| ENST00000681190.1:c.262A>G | ENSP00000506428.1:p.Lys88Glu | |
| ENST00000681874.1:c.262A>G | ENSP00000505162.1:p.Lys88Glu | |
| ENST00000362061.3:c.262A>G | ENSP00000355192.3:p.Lys88Glu | |
| ENST00000367338.7:c.262A>G | ENSP00000356307.3:p.Lys88Glu | |
| NM_000069.2:c.262A>G | NP_000060.2:p.Lys88Glu | |
| XM_005245478.2:c.262A>G | XP_005245535.1:p.Lys88Glu | |
| XM_005245478.3:c.262A>G | XP_005245535.1:p.Lys88Glu | |
| NM_000069.3:c.262A>G MANE Select | NP_000060.2:p.Lys88Glu |