Linked Data
ClinVar Variation Id:
8572
ClinVar RCV Id:
RCV000009103
dbSNP Id:
rs121912574
PubMed:
PMID:16954160
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148081384T>C , CM000666.2:g.148081384T>C | GRCh38 |
| NC_000004.11:g.149002535T>C , CM000666.1:g.149002535T>C | GRCh37 |
| NC_000004.10:g.149221985T>C | NCBI36 |
| NG_013350.1:g.366138A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.2915A>G MANE Select | ENSP00000350815.3:p.Glu972Gly | |
| ENST00000342437.8:c.*298A>G | ENSP00000343907.4:n.*298A>G | |
| ENST00000344721.8:c.2915A>G | ENSP00000341390.4:p.Glu972Gly | |
| ENST00000358102.7:c.2915A>G | ENSP00000350815.3:p.Glu972Gly | |
| ENST00000511528.1:c.2927A>G | ENSP00000421481.1:p.Glu976Gly | |
| ENST00000512865.5:c.2564A>G | ENSP00000423510.1:p.Glu855Gly | |
| ENST00000625323.2:c.2927A>G | ENSP00000486719.1:p.Glu976Gly | |
| NM_000901.4:c.2915A>G | NP_000892.2:p.Glu972Gly | |
| NM_001166104.1:c.2564A>G | NP_001159576.1:p.Glu855Gly | |
| XM_011531975.1:c.2927A>G | XP_011530277.1:p.Glu976Gly | |
| XM_011531976.1:c.2927A>G | XP_011530278.1:p.Glu976Gly | |
| XM_011531977.1:c.2927A>G | XP_011530279.1:p.Glu976Gly | |
| NM_001354819.1:c.2564A>G | NP_001341748.1:p.Glu855Gly | |
| NR_148974.1:n.2782A>G | ||
| NM_000901.5:c.2915A>G MANE Select | NP_000892.2:p.Glu972Gly | |
| NM_001166104.2:c.2564A>G | NP_001159576.1:p.Glu855Gly | |
| NR_148974.2:n.2676A>G |