Linked Data
ClinVar Variation Id:
2081920
ClinVar RCV Id:
RCV002995722
dbSNP Id:
rs748518466
ExAC:
15:89861881 T / C
gnomAD v2:
15-89861881-T-C
gnomAD v3:
15-89318650-T-C
gnomAD v4:
15-89318650-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318650T>C , CM000677.2:g.89318650T>C | GRCh38 |
| NC_000015.9:g.89861881T>C , CM000677.1:g.89861881T>C | GRCh37 |
| NC_000015.8:g.87662885T>C | NCBI36 |
| NG_008218.1:g.21146A>G | |
| NG_011736.1:g.79688T>C , LRG_500:g.79688T>C | |
| NG_008218.2:g.21146A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3373A>G | ENSP00000516154.1:p.Ile1125Val | |
| ENST00000268124.11:c.3373A>G MANE Select | ENSP00000268124.5:p.Ile1125Val | |
| ENST00000530292.3:c.2974A>G | ENSP00000432885.2:p.Ile992Val | |
| ENST00000635986.2:c.*443A>G | ENSP00000490653.2:n.*443A>G | |
| ENST00000636774.1:c.*1940A>G | ENSP00000489799.1:n.*1940A>G | |
| ENST00000637238.1:c.2182A>G | ENSP00000490756.1:n.2182A>G | |
| ENST00000637264.1:c.2445A>G | ||
| ENST00000666746.1:c.2950A>G | ||
| ENST00000672071.1:n.3571A>G | ||
| ENST00000672695.1:n.550A>G | ||
| ENST00000672923.2:n.3373A>G | ||
| ENST00000268124.9:c.3373A>G | ENSP00000268124.5:p.Ile1125Val | |
| ENST00000442287.6:c.3373A>G | ENSP00000399851.2:p.Ile1125Val | |
| ENST00000530292.2:c.457A>G | ENSP00000432885.1:p.Ile153Val | |
| ENST00000631044.2:c.*2797A>G | ENSP00000486730.1:n.*2797A>G | |
| NM_001126131.1:c.3373A>G | NP_001119603.1:p.Ile1125Val | |
| NM_002693.2:c.3373A>G | NP_002684.1:p.Ile1125Val | |
| NM_001126131.2:c.3373A>G | NP_001119603.1:p.Ile1125Val | |
| NM_002693.3:c.3373A>G MANE Select | NP_002684.1:p.Ile1125Val |