Linked Data
ClinVar Variation Id:
13497
ClinVar RCV Id:
RCV000014444
RCV000188648
RCV000626287
RCV000762954
RCV001266602
RCV003387722
RCV001813984
dbSNP Id:
rs121918044
ExAC:
15:89872286 A / C
gnomAD v2:
15-89872286-A-C
gnomAD v3:
15-89329055-A-C
gnomAD v4:
15-89329055-A-C
PubMed:
PMID:11431686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89329055A>C , CM000677.2:g.89329055A>C | GRCh38 |
| NC_000015.9:g.89872286A>C , CM000677.1:g.89872286A>C | GRCh37 |
| NC_000015.8:g.87673290A>C | NCBI36 |
| NG_008218.1:g.10741T>G | |
| NG_008218.2:g.10741T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.911T>G | ENSP00000516154.1:p.Leu304Arg | |
| ENST00000268124.11:c.911T>G MANE Select | ENSP00000268124.5:p.Leu304Arg | |
| ENST00000530292.3:c.512T>G | ENSP00000432885.2:p.Leu171Arg | |
| ENST00000635986.2:c.911T>G | ENSP00000490653.2:p.Leu304Arg | |
| ENST00000636774.1:c.911T>G | ENSP00000489799.1:p.Leu304Arg | |
| ENST00000666746.1:c.568T>G | ||
| ENST00000672071.1:n.1109T>G | ||
| ENST00000268124.9:c.911T>G | ENSP00000268124.5:p.Leu304Arg | |
| ENST00000442287.6:c.911T>G | ENSP00000399851.2:p.Leu304Arg | |
| ENST00000631044.2:c.*294T>G | ENSP00000486730.1:n.*294T>G | |
| NM_001126131.1:c.911T>G | NP_001119603.1:p.Leu304Arg | |
| NM_002693.2:c.911T>G | NP_002684.1:p.Leu304Arg | |
| NM_001126131.2:c.911T>G | NP_001119603.1:p.Leu304Arg | |
| NM_002693.3:c.911T>G MANE Select | NP_002684.1:p.Leu304Arg |