Linked Data
dbSNP Id:
rs2063369486
gnomAD v4:
17-39872409-C-G
MyVariant Identifiers:
chr17:g.38028662C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39872409C>G , CM000679.2:g.39872409C>G | GRCh38 |
| NC_000017.10:g.38028662C>G , CM000679.1:g.38028662C>G | GRCh37 |
| NC_000017.9:g.35282188C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348931.9:c.546C>G MANE Select | ENSP00000335384.5:p.Val182= | |
| ENST00000348931.8:c.546C>G | ENSP00000335384.5:p.Val182= | |
| ENST00000377940.3:c.480C>G | ENSP00000367174.3:p.Val160= | |
| ENST00000583811.5:c.192C>G | ENSP00000462463.1:p.Val64= | |
| ENST00000584588.5:c.407-635C>G | ENSP00000462067.1:n.407-635C>G | |
| NM_198844.2:c.480C>G | NP_942141.2:p.Val160= | |
| NM_199321.2:c.546C>G | NP_955353.1:p.Val182= | |
| XM_011524298.1:c.546C>G | XP_011522600.1:p.Val182= | |
| XR_002957959.1:n.737C>G | ||
| NM_198844.3:c.480C>G | NP_942141.2:p.Val160= | |
| NM_199321.3:c.546C>G MANE Select | NP_955353.1:p.Val182= |