Linked Data
ClinVar Variation Id:
2870
ClinVar RCV Id:
RCV000003004
dbSNP Id:
rs137852913
PubMed:
PMID:12717434
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46905517G>C , CM000664.2:g.46905517G>C | GRCh38 |
| NC_000002.11:g.47132656G>C , CM000664.1:g.47132656G>C | GRCh37 |
| NC_000002.10:g.46986160G>C | NCBI36 |
| NG_016428.2:g.41339C>G , LRG_566:g.41339C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319466.9:c.387C>G MANE Select | ENSP00000317271.4:p.Asp129Glu | |
| ENST00000649435.1:c.*53C>G | ENSP00000498024.1:n.*53C>G | |
| ENST00000319466.8:c.387C>G | ENSP00000317271.4:p.Asp129Glu | |
| ENST00000409105.5:c.387C>G | ENSP00000386651.1:p.Asp129Glu | |
| ENST00000409147.1:c.231C>G | ENSP00000387082.1:p.Asp77Glu | |
| ENST00000409207.5:c.387C>G | ENSP00000386386.1:p.Asp129Glu | |
| ENST00000409218.5:c.387C>G | ENSP00000386261.1:p.Asp129Glu | |
| ENST00000409800.5:c.231C>G | ENSP00000387202.1:p.Asp77Glu | |
| ENST00000409913.5:c.231C>G | ENSP00000386941.1:p.Asp77Glu | |
| ENST00000409973.5:c.387C>G | ENSP00000386279.1:p.Asp129Glu | |
| ENST00000412438.5:c.387C>G | ENSP00000402717.1:p.Asp129Glu | |
| ENST00000444761.6:c.330C>G | ENSP00000394647.2:p.Asp110Glu | |
| ENST00000470873.1:n.280C>G | ||
| ENST00000493804.1:n.145C>G | ||
| NM_001171506.2:c.387C>G , LRG_566t1:c.387C>G | NP_001164977.1:p.Asp129Glu | |
| NM_001171507.2:c.387C>G , LRG_566t2:c.387C>G | NP_001164978.1:p.Asp129Glu | |
| NM_001171508.2:c.387C>G , LRG_566t3:c.387C>G | NP_001164979.1:p.Asp129Glu | |
| NM_001171509.2:c.231C>G | NP_001164980.1:p.Asp77Glu | |
| NM_001171510.2:c.231C>G | NP_001164981.1:p.Asp77Glu | |
| NM_001171511.2:c.330C>G | NP_001164982.1:p.Asp110Glu | |
| NM_139279.5:c.387C>G , LRG_566t4:c.387C>G | NP_644808.1:p.Asp129Glu | |
| NM_001171509.3:c.231C>G | NP_001164980.1:p.Asp77Glu | |
| NM_001171510.3:c.231C>G | NP_001164981.1:p.Asp77Glu | |
| NM_139279.6:c.387C>G MANE Select | NP_644808.1:p.Asp129Glu | |
| NM_001171511.3:c.330C>G | NP_001164982.1:p.Asp110Glu |