Linked Data
ClinVar Variation Id:
1536432
dbSNP Id:
rs2055426550
gnomAD v4:
15-89323410-A-C
MyVariant Identifiers:
chr15:g.89866641A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323410A>C , CM000677.2:g.89323410A>C | GRCh38 |
| NC_000015.9:g.89866641A>C , CM000677.1:g.89866641A>C | GRCh37 |
| NC_000015.8:g.87667645A>C | NCBI36 |
| NG_008218.1:g.16386T>G | |
| NG_008218.2:g.16386T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2259T>G | ENSP00000516154.1:p.Pro753= | |
| ENST00000268124.11:c.2259T>G MANE Select | ENSP00000268124.5:p.Pro753= | |
| ENST00000530292.3:c.1860T>G | ENSP00000432885.2:p.Pro620= | |
| ENST00000635986.2:c.2259T>G | ENSP00000490653.2:p.Pro753= | |
| ENST00000636774.1:c.*826T>G | ENSP00000489799.1:n.*826T>G | |
| ENST00000637238.1:c.956T>G | ENSP00000490756.1:n.956T>G | |
| ENST00000637264.1:c.1331T>G | ||
| ENST00000666746.1:c.1836T>G | ||
| ENST00000670281.1:c.579T>G | ENSP00000499709.1:p.Pro193= | |
| ENST00000672071.1:n.2457T>G | ||
| ENST00000672923.2:n.2362T>G | ||
| ENST00000268124.9:c.2259T>G | ENSP00000268124.5:p.Pro753= | |
| ENST00000442287.6:c.2259T>G | ENSP00000399851.2:p.Pro753= | |
| ENST00000526314.2:c.539+405T>G | ||
| ENST00000526398.1:c.408T>G | ||
| ENST00000528881.2:c.28T>G | ||
| ENST00000530715.5:c.18T>G | ENSP00000431395.1:p.Pro6= | |
| ENST00000532584.5:n.461T>G | ||
| ENST00000631044.2:c.*1683T>G | ENSP00000486730.1:n.*1683T>G | |
| NM_001126131.1:c.2259T>G | NP_001119603.1:p.Pro753= | |
| NM_002693.2:c.2259T>G | NP_002684.1:p.Pro753= | |
| NM_001126131.2:c.2259T>G | NP_001119603.1:p.Pro753= | |
| NM_002693.3:c.2259T>G MANE Select | NP_002684.1:p.Pro753= |