Linked Data
ClinVar Variation Id:
1552730
ClinVar RCV Id:
RCV002185077
dbSNP Id:
rs2152056682
MyVariant Identifiers:
chr15:g.89860748G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89317517G>A , CM000677.2:g.89317517G>A | GRCh38 |
| NC_000015.9:g.89860748G>A , CM000677.1:g.89860748G>A | GRCh37 |
| NC_000015.8:g.87661752G>A | NCBI36 |
| NG_008218.1:g.22279C>T | |
| NG_011736.1:g.78555G>A , LRG_500:g.78555G>A | |
| NG_008218.2:g.22279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3502C>T | ENSP00000516154.1:p.Leu1168= | |
| ENST00000268124.11:c.3502C>T MANE Select | ENSP00000268124.5:p.Leu1168= | |
| ENST00000530292.3:c.3202C>T | ENSP00000432885.2:n.3202C>T | |
| ENST00000635986.2:c.*572C>T | ENSP00000490653.2:n.*572C>T | |
| ENST00000636774.1:c.*2106C>T | ENSP00000489799.1:n.*2106C>T | |
| ENST00000637042.1:n.72-46C>T | ||
| ENST00000637238.1:c.2410C>T | ENSP00000490756.1:n.2410C>T | |
| ENST00000637264.1:c.2555-41C>T | ||
| ENST00000666746.1:c.3079C>T | ||
| ENST00000672071.1:n.4704C>T | ||
| ENST00000672695.1:n.1281C>T | ||
| ENST00000672923.2:n.3502C>T | ||
| ENST00000268124.9:c.3502C>T | ENSP00000268124.5:p.Leu1168= | |
| ENST00000442287.6:c.3502C>T | ENSP00000399851.2:p.Leu1168= | |
| ENST00000526671.1:n.312C>T | ||
| ENST00000530292.2:c.685C>T | ENSP00000432885.1:n.685C>T | |
| ENST00000631044.2:c.*2926C>T | ENSP00000486730.1:n.*2926C>T | |
| NM_001126131.1:c.3502C>T | NP_001119603.1:p.Leu1168= | |
| NM_002693.2:c.3502C>T | NP_002684.1:p.Leu1168= | |
| NM_001126131.2:c.3502C>T | NP_001119603.1:p.Leu1168= | |
| NM_002693.3:c.3502C>T MANE Select | NP_002684.1:p.Leu1168= |