Linked Data
ClinVar Variation Id:
834675
dbSNP Id:
rs766850261
ExAC:
15:48737648 T / C
gnomAD v2:
15-48737648-T-C
gnomAD v4:
15-48445451-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445451T>C , CM000677.2:g.48445451T>C | GRCh38 |
| NC_000015.9:g.48737648T>C , CM000677.1:g.48737648T>C | GRCh37 |
| NC_000015.8:g.46524940T>C | NCBI36 |
| NG_008805.2:g.205338A>G , LRG_778:g.205338A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5842A>G | ENSP00000453958.2:p.Ile1948Val | |
| ENST00000674301.2:c.5842A>G | ENSP00000501333.2:p.Ile1948Val | |
| ENST00000684448.1:n.4516A>G | ||
| ENST00000316623.10:c.5842A>G MANE Select | ENSP00000325527.5:p.Ile1948Val | |
| ENST00000674301.1:c.841A>G | ENSP00000501333.1:p.Ile281Val | |
| ENST00000316623.9:c.5842A>G | ENSP00000325527.5:p.Ile1948Val | |
| ENST00000537463.6:c.*1605A>G | ENSP00000440294.2:n.*1605A>G | |
| ENST00000559133.5:c.1149A>G | ||
| NM_000138.4:c.5842A>G , LRG_778t1:c.5842A>G | NP_000129.3:p.Ile1948Val | |
| NM_000138.5:c.5842A>G MANE Select | NP_000129.3:p.Ile1948Val |