Linked Data
ClinVar Variation Id:
2577374
ClinVar RCV Id:
RCV003324451
dbSNP Id:
rs1213000733
gnomAD v4:
15-89323406-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323406T>G , CM000677.2:g.89323406T>G | GRCh38 |
| NC_000015.9:g.89866637T>G , CM000677.1:g.89866637T>G | GRCh37 |
| NC_000015.8:g.87667641T>G | NCBI36 |
| NG_008218.1:g.16390A>C | |
| NG_008218.2:g.16390A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2263A>C | ENSP00000516154.1:p.Lys755Gln | |
| ENST00000268124.11:c.2263A>C MANE Select | ENSP00000268124.5:p.Lys755Gln | |
| ENST00000530292.3:c.1864A>C | ENSP00000432885.2:p.Lys622Gln | |
| ENST00000635986.2:c.2263A>C | ENSP00000490653.2:p.Lys755Gln | |
| ENST00000636774.1:c.*830A>C | ENSP00000489799.1:n.*830A>C | |
| ENST00000637238.1:c.960A>C | ENSP00000490756.1:n.960A>C | |
| ENST00000637264.1:c.1335A>C | ||
| ENST00000666746.1:c.1840A>C | ||
| ENST00000670281.1:c.583A>C | ENSP00000499709.1:p.Lys195Gln | |
| ENST00000672071.1:n.2461A>C | ||
| ENST00000672923.2:n.2366A>C | ||
| ENST00000268124.9:c.2263A>C | ENSP00000268124.5:p.Lys755Gln | |
| ENST00000442287.6:c.2263A>C | ENSP00000399851.2:p.Lys755Gln | |
| ENST00000526314.2:c.539+409A>C | ||
| ENST00000526398.1:c.412A>C | ||
| ENST00000528881.2:c.32A>C | ||
| ENST00000530715.5:c.22A>C | ENSP00000431395.1:p.Lys8Gln | |
| ENST00000532584.5:n.465A>C | ||
| ENST00000631044.2:c.*1687A>C | ENSP00000486730.1:n.*1687A>C | |
| NM_001126131.1:c.2263A>C | NP_001119603.1:p.Lys755Gln | |
| NM_002693.2:c.2263A>C | NP_002684.1:p.Lys755Gln | |
| NM_001126131.2:c.2263A>C | NP_001119603.1:p.Lys755Gln | |
| NM_002693.3:c.2263A>C MANE Select | NP_002684.1:p.Lys755Gln |