Linked Data
ClinVar Variation Id:
378415
dbSNP Id:
rs752500492
ExAC:
15:89864098 G / A
gnomAD v2:
15-89864098-G-A
gnomAD v3:
15-89320867-G-A
gnomAD v4:
15-89320867-G-A
COSMIC:
COSM4640031
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89320867G>A , CM000677.2:g.89320867G>A | GRCh38 |
| NC_000015.9:g.89864098G>A , CM000677.1:g.89864098G>A | GRCh37 |
| NC_000015.8:g.87665102G>A | NCBI36 |
| NG_008218.1:g.18929C>T | |
| NG_008218.2:g.18929C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2880C>T | ENSP00000516154.1:p.Pro960= | |
| ENST00000268124.11:c.2880C>T MANE Select | ENSP00000268124.5:p.Pro960= | |
| ENST00000530292.3:c.2481C>T | ENSP00000432885.2:p.Pro827= | |
| ENST00000635986.2:c.2880C>T | ENSP00000490653.2:p.Pro960= | |
| ENST00000636774.1:c.*1447C>T | ENSP00000489799.1:n.*1447C>T | |
| ENST00000637238.1:c.1689C>T | ENSP00000490756.1:n.1689C>T | |
| ENST00000637264.1:c.1952C>T | ||
| ENST00000666746.1:c.2457C>T | ||
| ENST00000670281.1:c.800+1095C>T | ENSP00000499709.1:n.800+1095C>T | |
| ENST00000672071.1:n.3078C>T | ||
| ENST00000672695.1:n.57C>T | ||
| ENST00000672923.2:n.2822C>T | ||
| ENST00000268124.9:c.2880C>T | ENSP00000268124.5:p.Pro960= | |
| ENST00000442287.6:c.2880C>T | ENSP00000399851.2:p.Pro960= | |
| ENST00000528881.2:c.477C>T | ||
| ENST00000530715.5:c.188C>T | ENSP00000431395.1:p.Pro63Leu | |
| ENST00000631044.2:c.*2304C>T | ENSP00000486730.1:n.*2304C>T | |
| NM_001126131.1:c.2880C>T | NP_001119603.1:p.Pro960= | |
| NM_002693.2:c.2880C>T | NP_002684.1:p.Pro960= | |
| NM_001126131.2:c.2880C>T | NP_001119603.1:p.Pro960= | |
| NM_002693.3:c.2880C>T MANE Select | NP_002684.1:p.Pro960= |