Linked Data
ClinVar Variation Id:
619410
ClinVar RCV Id:
RCV000758439
dbSNP Id:
rs139717885
gnomAD v4:
15-89325610-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325610G>C , CM000677.2:g.89325610G>C | GRCh38 |
| NC_000015.9:g.89868841G>C , CM000677.1:g.89868841G>C | GRCh37 |
| NC_000015.8:g.87669845G>C | NCBI36 |
| NG_008218.1:g.14186C>G | |
| NG_008218.2:g.14186C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.1789C>G | ENSP00000516154.1:p.Arg597Gly | |
| ENST00000268124.11:c.1789C>G MANE Select | ENSP00000268124.5:p.Arg597Gly | |
| ENST00000530292.3:c.1390C>G | ENSP00000432885.2:p.Arg464Gly | |
| ENST00000635986.2:c.1789C>G | ENSP00000490653.2:p.Arg597Gly | |
| ENST00000636774.1:c.*356C>G | ENSP00000489799.1:n.*356C>G | |
| ENST00000637238.1:c.526C>G | ENSP00000490756.1:p.Arg176Gly | |
| ENST00000637264.1:c.861C>G | ||
| ENST00000666746.1:c.1366C>G | ||
| ENST00000670281.1:c.109C>G | ENSP00000499709.1:p.Arg37Gly | |
| ENST00000672071.1:n.1987C>G | ||
| ENST00000672923.2:n.1892C>G | ||
| ENST00000268124.9:c.1789C>G | ENSP00000268124.5:p.Arg597Gly | |
| ENST00000442287.6:c.1789C>G | ENSP00000399851.2:p.Arg597Gly | |
| ENST00000526314.2:c.171C>G | ||
| ENST00000631044.2:c.*1172C>G | ENSP00000486730.1:n.*1172C>G | |
| NM_001126131.1:c.1789C>G | NP_001119603.1:p.Arg597Gly | |
| NM_002693.2:c.1789C>G | NP_002684.1:p.Arg597Gly | |
| NM_001126131.2:c.1789C>G | NP_001119603.1:p.Arg597Gly | |
| NM_002693.3:c.1789C>G MANE Select | NP_002684.1:p.Arg597Gly |