Linked Data
ClinVar Variation Id:
459161
dbSNP Id:
rs774090318
ExAC:
1:17350496 T / C
gnomAD v2:
1-17350496-T-C
gnomAD v4:
1-17024001-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024001T>C , CM000663.2:g.17024001T>C | GRCh38 |
| NC_000001.10:g.17350496T>C , CM000663.1:g.17350496T>C | GRCh37 |
| NC_000001.9:g.17223083T>C | NCBI36 |
| NG_012340.1:g.35170A>G , LRG_316:g.35170A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.443A>G | ENSP00000481376.2:p.Lys148Arg | |
| ENST00000491274.6:c.572A>G | ENSP00000480482.2:p.Lys191Arg | |
| ENST00000375499.8:c.614A>G MANE Select | ENSP00000364649.3:p.Lys205Arg | |
| ENST00000375499.7:c.614A>G | ENSP00000364649.3:p.Lys205Arg | |
| ENST00000485515.5:n.548A>G | ||
| ENST00000491274.5:c.572A>G | ENSP00000480482.1:p.Lys191Arg | |
| NM_003000.2:c.614A>G , LRG_316t1:c.614A>G | NP_002991.2:p.Lys205Arg | |
| NM_003000.3:c.614A>G MANE Select | NP_002991.2:p.Lys205Arg |