Linked Data
ClinVar Variation Id:
8564
ClinVar RCV Id:
RCV000009095
dbSNP Id:
rs121912566
PubMed:
PMID:12788847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148259978C>T , CM000666.2:g.148259978C>T | GRCh38 |
| NC_000004.11:g.149181130C>T , CM000666.1:g.149181130C>T | GRCh37 |
| NC_000004.10:g.149400580C>T | NCBI36 |
| NG_013350.1:g.187543G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.1897G>A MANE Select | ENSP00000350815.3:p.Gly633Arg | |
| ENST00000342437.8:c.1897G>A | ENSP00000343907.4:p.Gly633Arg | |
| ENST00000344721.8:c.1897G>A | ENSP00000341390.4:p.Gly633Arg | |
| ENST00000358102.7:c.1897G>A | ENSP00000350815.3:p.Gly633Arg | |
| ENST00000504753.1:n.346G>A | ||
| ENST00000511528.1:c.1897G>A | ENSP00000421481.1:p.Gly633Ser | |
| ENST00000512865.5:c.1897G>A | ENSP00000423510.1:p.Gly633Arg | |
| ENST00000625323.2:c.1897G>A | ENSP00000486719.1:p.Gly633Ser | |
| NM_000901.4:c.1897G>A | NP_000892.2:p.Gly633Arg | |
| NM_001166104.1:c.1897G>A | NP_001159576.1:p.Gly633Arg | |
| XM_011531975.1:c.1897G>A | XP_011530277.1:p.Gly633Ser | |
| XM_011531976.1:c.1897G>A | XP_011530278.1:p.Gly633Ser | |
| XM_011531977.1:c.1897G>A | XP_011530279.1:p.Gly633Ser | |
| XM_011531978.1:c.1897G>A | XP_011530280.1:p.Gly633Ser | |
| NM_001354819.1:c.1897G>A | NP_001341748.1:p.Gly633Arg | |
| NR_148974.1:n.2260G>A | ||
| XM_011531978.2:c.1897G>A | XP_011530280.1:p.Gly633Ser | |
| NM_000901.5:c.1897G>A MANE Select | NP_000892.2:p.Gly633Arg | |
| NM_001166104.2:c.1897G>A | NP_001159576.1:p.Gly633Arg | |
| NR_148974.2:n.2154G>A |