Linked Data
ClinVar Variation Id:
21312
ClinVar RCV Id:
RCV000020476
RCV000118018
RCV000386578
RCV000469563
RCV000676317
RCV000755650
RCV000999632
RCV001119316
RCV002311518
RCV001847611
dbSNP Id:
rs2307441
ExAC:
15:89861826 T / C
gnomAD v2:
15-89861826-T-C
gnomAD v3:
15-89318595-T-C
gnomAD v4:
15-89318595-T-C
PubMed:
PMID:20301791
ERepo:
CA248706/MONDO:0044970/014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318595T>C , CM000677.2:g.89318595T>C | GRCh38 |
| NC_000015.9:g.89861826T>C , CM000677.1:g.89861826T>C | GRCh37 |
| NC_000015.8:g.87662830T>C | NCBI36 |
| NG_008218.1:g.21201A>G | |
| NG_011736.1:g.79633T>C , LRG_500:g.79633T>C | |
| NG_008218.2:g.21201A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3428A>G | ENSP00000516154.1:p.Glu1143Gly | |
| ENST00000268124.11:c.3428A>G MANE Select | ENSP00000268124.5:p.Glu1143Gly | |
| ENST00000530292.3:c.3029A>G | ENSP00000432885.2:p.Glu1010Gly | |
| ENST00000635986.2:c.*498A>G | ENSP00000490653.2:n.*498A>G | |
| ENST00000636774.1:c.*1995A>G | ENSP00000489799.1:n.*1995A>G | |
| ENST00000637238.1:c.2237A>G | ENSP00000490756.1:n.2237A>G | |
| ENST00000637264.1:c.2500A>G | ||
| ENST00000666746.1:c.3005A>G | ||
| ENST00000672071.1:n.3626A>G | ||
| ENST00000672695.1:n.605A>G | ||
| ENST00000672923.2:n.3428A>G | ||
| ENST00000268124.9:c.3428A>G | ENSP00000268124.5:p.Glu1143Gly | |
| ENST00000442287.6:c.3428A>G | ENSP00000399851.2:p.Glu1143Gly | |
| ENST00000530292.2:c.512A>G | ENSP00000432885.1:p.Glu171Gly | |
| ENST00000631044.2:c.*2852A>G | ENSP00000486730.1:n.*2852A>G | |
| NM_001126131.1:c.3428A>G | NP_001119603.1:p.Glu1143Gly | |
| NM_002693.2:c.3428A>G | NP_002684.1:p.Glu1143Gly | |
| NM_001126131.2:c.3428A>G | NP_001119603.1:p.Glu1143Gly | |
| NM_002693.3:c.3428A>G MANE Select | NP_002684.1:p.Glu1143Gly |