Linked Data
ClinVar Variation Id:
2859075
ClinVar RCV Id:
RCV003616872
dbSNP Id:
rs1285493044
gnomAD v2:
17-62024518-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63947158T>C , CM000679.2:g.63947158T>C | GRCh38 |
| NC_000017.10:g.62024518T>C , CM000679.1:g.62024518T>C | GRCh37 |
| NC_000017.9:g.59378250T>C | NCBI36 |
| NG_011699.1:g.30761A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3328A>G MANE Select | ENSP00000396320.1:p.Ile1110Val | |
| ENST00000578147.5:c.3328A>G | ENSP00000463963.1:p.Ile1110Val | |
| NM_000334.4:c.3328A>G MANE Select | NP_000325.4:p.Ile1110Val | |
| XM_005257566.3:c.3328A>G | XP_005257623.1:p.Ile1110Val |