Linked Data
ClinVar Variation Id:
196354
ClinVar RCV Id:
RCV000177165
RCV000233823
RCV000415771
RCV000709833
RCV000768291
RCV001847817
RCV001121511
RCV002312719
RCV002227084
RCV002516726
dbSNP Id:
rs61752784
ExAC:
15:89873364 C / G
gnomAD v2:
15-89873364-C-G
gnomAD v3:
15-89330133-C-G
gnomAD v4:
15-89330133-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89330133C>G , CM000677.2:g.89330133C>G | GRCh38 |
| NC_000015.9:g.89873364C>G , CM000677.1:g.89873364C>G | GRCh37 |
| NC_000015.8:g.87674368C>G | NCBI36 |
| NG_008218.1:g.9663G>C | |
| NG_008218.2:g.9663G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.803G>C | ENSP00000516154.1:p.Gly268Ala | |
| ENST00000268124.11:c.803G>C MANE Select | ENSP00000268124.5:p.Gly268Ala | |
| ENST00000530292.3:c.404G>C | ENSP00000432885.2:p.Gly135Ala | |
| ENST00000635986.2:c.803G>C | ENSP00000490653.2:p.Gly268Ala | |
| ENST00000636774.1:c.803G>C | ENSP00000489799.1:p.Gly268Ala | |
| ENST00000666746.1:c.460G>C | ||
| ENST00000672071.1:n.1001G>C | ||
| ENST00000268124.9:c.803G>C | ENSP00000268124.5:p.Gly268Ala | |
| ENST00000442287.6:c.803G>C | ENSP00000399851.2:p.Gly268Ala | |
| ENST00000631044.2:c.*186G>C | ENSP00000486730.1:n.*186G>C | |
| NM_001126131.1:c.803G>C | NP_001119603.1:p.Gly268Ala | |
| NM_002693.2:c.803G>C | NP_002684.1:p.Gly268Ala | |
| NM_001126131.2:c.803G>C | NP_001119603.1:p.Gly268Ala | |
| NM_002693.3:c.803G>C MANE Select | NP_002684.1:p.Gly268Ala |