Linked Data
ClinVar Variation Id:
65665
ClinVar RCV Id:
RCV000055881
RCV000118011
RCV000186556
RCV000223970
RCV000229511
RCV000768289
RCV001352901
RCV001117969
RCV001847644
RCV002311532
RCV003985725
dbSNP Id:
rs61752783
ExAC:
15:89870178 C / A
gnomAD v2:
15-89870178-C-A
gnomAD v3:
15-89326947-C-A
gnomAD v4:
15-89326947-C-A
MyVariant Identifiers:
chr15:g.89870178C>A (hg19)
chr15:g.89870178_89870181delinsACCT (hg19)
chr15:g.89326947C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89326947C>A , CM000677.2:g.89326947C>A | GRCh38 |
| NC_000015.9:g.89870178C>A , CM000677.1:g.89870178C>A | GRCh37 |
| NC_000015.8:g.87671182C>A | NCBI36 |
| NG_008218.1:g.12849G>T | |
| NG_008218.2:g.12849G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1550G>T | ENSP00000516154.1:p.Gly517Val | |
| ENST00000268124.11:c.1550G>T MANE Select | ENSP00000268124.5:p.Gly517Val | |
| ENST00000530292.3:c.1151G>T | ENSP00000432885.2:p.Gly384Val | |
| ENST00000635986.2:c.1550G>T | ENSP00000490653.2:p.Gly517Val | |
| ENST00000636774.1:c.*117G>T | ENSP00000489799.1:n.*117G>T | |
| ENST00000637238.1:c.287G>T | ENSP00000490756.1:p.Gly96Val | |
| ENST00000637264.1:c.622G>T | ||
| ENST00000666746.1:c.1127G>T | ||
| ENST00000672071.1:n.1748G>T | ||
| ENST00000672923.2:n.1653G>T | ||
| ENST00000268124.9:c.1550G>T | ENSP00000268124.5:p.Gly517Val | |
| ENST00000442287.6:c.1550G>T | ENSP00000399851.2:p.Gly517Val | |
| ENST00000631044.2:c.*933G>T | ENSP00000486730.1:n.*933G>T | |
| NM_001126131.1:c.1550G>T | NP_001119603.1:p.Gly517Val | |
| NM_002693.2:c.1550G>T | NP_002684.1:p.Gly517Val | |
| NM_001126131.2:c.1550G>T | NP_001119603.1:p.Gly517Val | |
| NM_002693.3:c.1550G>T MANE Select | NP_002684.1:p.Gly517Val |