Linked Data
dbSNP Id:
rs1443156084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659126A>G , CM000685.2:g.136659126A>G | GRCh38 |
| NC_000023.10:g.135741285A>G , CM000685.1:g.135741285A>G | GRCh37 |
| NC_000023.9:g.135568951A>G | NCBI36 |
| NG_007280.1:g.15950A>G , LRG_141:g.15950A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*115A>G | ENSP00000512122.1:n.*115A>G | |
| ENST00000695725.1:c.*52A>G | ENSP00000512123.1:n.*52A>G | |
| ENST00000695726.1:n.2465A>G | ||
| ENST00000695729.1:n.3300A>G | ||
| ENST00000370629.7:c.497A>G MANE Select | ENSP00000359663.2:p.Gln166Arg | |
| ENST00000370628.2:c.434A>G | ENSP00000359662.2:p.Gln145Arg | |
| ENST00000370629.6:c.497A>G | ENSP00000359663.2:p.Gln166Arg | |
| NM_000074.2:c.497A>G , LRG_141t1:c.497A>G | NP_000065.1:p.Gln166Arg | |
| NM_000074.3:c.497A>G MANE Select | NP_000065.1:p.Gln166Arg |