Linked Data
ClinVar Variation Id:
573356
ClinVar RCV Id:
RCV000695008
dbSNP Id:
rs781181789
gnomAD v4:
15-89328761-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328761C>G , CM000677.2:g.89328761C>G | GRCh38 |
| NC_000015.9:g.89871992C>G , CM000677.1:g.89871992C>G | GRCh37 |
| NC_000015.8:g.87672996C>G | NCBI36 |
| NG_008218.1:g.11035G>C | |
| NG_008218.2:g.11035G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1094G>C | ENSP00000516154.1:p.Gly365Ala | |
| ENST00000268124.11:c.1094G>C MANE Select | ENSP00000268124.5:p.Gly365Ala | |
| ENST00000530292.3:c.695G>C | ENSP00000432885.2:p.Gly232Ala | |
| ENST00000635986.2:c.1094G>C | ENSP00000490653.2:p.Gly365Ala | |
| ENST00000636774.1:c.1094G>C | ENSP00000489799.1:p.Gly365Ala | |
| ENST00000637264.1:c.166G>C | ||
| ENST00000666746.1:c.751G>C | ||
| ENST00000672071.1:n.1292G>C | ||
| ENST00000672923.2:n.91G>C | ||
| ENST00000268124.9:c.1094G>C | ENSP00000268124.5:p.Gly365Ala | |
| ENST00000442287.6:c.1094G>C | ENSP00000399851.2:p.Gly365Ala | |
| ENST00000631044.2:c.*477G>C | ENSP00000486730.1:n.*477G>C | |
| NM_001126131.1:c.1094G>C | NP_001119603.1:p.Gly365Ala | |
| NM_002693.2:c.1094G>C | NP_002684.1:p.Gly365Ala | |
| NM_001126131.2:c.1094G>C | NP_001119603.1:p.Gly365Ala | |
| NM_002693.3:c.1094G>C MANE Select | NP_002684.1:p.Gly365Ala |