Linked Data
ClinVar Variation Id:
8565
ClinVar RCV Id:
RCV000009096
dbSNP Id:
rs121912567
PubMed:
PMID:12788847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148081363A>G , CM000666.2:g.148081363A>G | GRCh38 |
| NC_000004.11:g.149002514A>G , CM000666.1:g.149002514A>G | GRCh37 |
| NC_000004.10:g.149221964A>G | NCBI36 |
| NG_013350.1:g.366159T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358102.8:c.2936T>C MANE Select | ENSP00000350815.3:p.Leu979Pro | |
| ENST00000342437.8:c.*319T>C | ENSP00000343907.4:n.*319T>C | |
| ENST00000344721.8:c.2936T>C | ENSP00000341390.4:p.Leu979Pro | |
| ENST00000358102.7:c.2936T>C | ENSP00000350815.3:p.Leu979Pro | |
| ENST00000511528.1:c.2948T>C | ENSP00000421481.1:p.Leu983Pro | |
| ENST00000512865.5:c.2585T>C | ENSP00000423510.1:p.Leu862Pro | |
| ENST00000625323.2:c.2948T>C | ENSP00000486719.1:p.Leu983Pro | |
| NM_000901.4:c.2936T>C | NP_000892.2:p.Leu979Pro | |
| NM_001166104.1:c.2585T>C | NP_001159576.1:p.Leu862Pro | |
| XM_011531975.1:c.2948T>C | XP_011530277.1:p.Leu983Pro | |
| XM_011531976.1:c.2948T>C | XP_011530278.1:p.Leu983Pro | |
| XM_011531977.1:c.2948T>C | XP_011530279.1:p.Leu983Pro | |
| NM_001354819.1:c.2585T>C | NP_001341748.1:p.Leu862Pro | |
| NR_148974.1:n.2803T>C | ||
| NM_000901.5:c.2936T>C MANE Select | NP_000892.2:p.Leu979Pro | |
| NM_001166104.2:c.2585T>C | NP_001159576.1:p.Leu862Pro | |
| NR_148974.2:n.2697T>C |