Linked Data
ClinVar Variation Id:
2743203
ClinVar RCV Id:
RCV003516602
dbSNP Id:
rs763550865
gnomAD v2:
15-89870169-G-A
gnomAD v4:
15-89326938-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89326938G>A , CM000677.2:g.89326938G>A | GRCh38 |
| NC_000015.9:g.89870169G>A , CM000677.1:g.89870169G>A | GRCh37 |
| NC_000015.8:g.87671173G>A | NCBI36 |
| NG_008218.1:g.12858C>T | |
| NG_008218.2:g.12858C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1559C>T | ENSP00000516154.1:p.Ala520Val | |
| ENST00000268124.11:c.1559C>T MANE Select | ENSP00000268124.5:p.Ala520Val | |
| ENST00000530292.3:c.1160C>T | ENSP00000432885.2:p.Ala387Val | |
| ENST00000635986.2:c.1559C>T | ENSP00000490653.2:p.Ala520Val | |
| ENST00000636774.1:c.*126C>T | ENSP00000489799.1:n.*126C>T | |
| ENST00000637238.1:c.296C>T | ENSP00000490756.1:p.Ala99Val | |
| ENST00000637264.1:c.631C>T | ||
| ENST00000666746.1:c.1136C>T | ||
| ENST00000672071.1:n.1757C>T | ||
| ENST00000672923.2:n.1662C>T | ||
| ENST00000268124.9:c.1559C>T | ENSP00000268124.5:p.Ala520Val | |
| ENST00000442287.6:c.1559C>T | ENSP00000399851.2:p.Ala520Val | |
| ENST00000631044.2:c.*942C>T | ENSP00000486730.1:n.*942C>T | |
| NM_001126131.1:c.1559C>T | NP_001119603.1:p.Ala520Val | |
| NM_002693.2:c.1559C>T | NP_002684.1:p.Ala520Val | |
| NM_001126131.2:c.1559C>T | NP_001119603.1:p.Ala520Val | |
| NM_002693.3:c.1559C>T MANE Select | NP_002684.1:p.Ala520Val |