Linked Data
ClinVar Variation Id:
13513
ClinVar RCV Id:
RCV000014467
RCV000188568
RCV000233045
RCV000370280
RCV000508744
RCV001004601
RCV000768053
RCV001813987
RCV001847605
RCV002316196
RCV003318542
RCV003985721
dbSNP Id:
rs121918054
ExAC:
15:89866691 C / G
gnomAD v2:
15-89866691-C-G
gnomAD v3:
15-89323460-C-G
gnomAD v4:
15-89323460-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323460C>G , CM000677.2:g.89323460C>G | GRCh38 |
| NC_000015.9:g.89866691C>G , CM000677.1:g.89866691C>G | GRCh37 |
| NC_000015.8:g.87667695C>G | NCBI36 |
| NG_008218.1:g.16336G>C | |
| NG_008218.2:g.16336G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2209G>C | ENSP00000516154.1:p.Gly737Arg | |
| ENST00000268124.11:c.2209G>C MANE Select | ENSP00000268124.5:p.Gly737Arg | |
| ENST00000530292.3:c.1810G>C | ENSP00000432885.2:p.Gly604Arg | |
| ENST00000635986.2:c.2209G>C | ENSP00000490653.2:p.Gly737Arg | |
| ENST00000636774.1:c.*776G>C | ENSP00000489799.1:n.*776G>C | |
| ENST00000637238.1:c.906G>C | ENSP00000490756.1:n.906G>C | |
| ENST00000637264.1:c.1281G>C | ||
| ENST00000666746.1:c.1786G>C | ||
| ENST00000670281.1:c.529G>C | ENSP00000499709.1:p.Gly177Arg | |
| ENST00000672071.1:n.2407G>C | ||
| ENST00000672923.2:n.2312G>C | ||
| ENST00000268124.9:c.2209G>C | ENSP00000268124.5:p.Gly737Arg | |
| ENST00000442287.6:c.2209G>C | ENSP00000399851.2:p.Gly737Arg | |
| ENST00000526314.2:c.539+355G>C | ||
| ENST00000526398.1:c.358G>C | ||
| ENST00000532584.5:n.411G>C | ||
| ENST00000631044.2:c.*1633G>C | ENSP00000486730.1:n.*1633G>C | |
| NM_001126131.1:c.2209G>C | NP_001119603.1:p.Gly737Arg | |
| NM_002693.2:c.2209G>C | NP_002684.1:p.Gly737Arg | |
| NM_001126131.2:c.2209G>C | NP_001119603.1:p.Gly737Arg | |
| NM_002693.3:c.2209G>C MANE Select | NP_002684.1:p.Gly737Arg |