Linked Data
dbSNP Id:
rs1555589044
gnomAD v2:
17-39883352-T-C
gnomAD v4:
17-41727100-T-C
MyVariant Identifiers:
chr17:g.39883352T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41727100T>C , CM000679.2:g.41727100T>C | GRCh38 |
| NC_000017.10:g.39883352T>C , CM000679.1:g.39883352T>C | GRCh37 |
| NC_000017.9:g.37136878T>C | NCBI36 |
| NG_009090.2:g.64613A>G , LRG_401:g.64613A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347901.9:c.1320A>G MANE Select | ENSP00000334002.4:p.Arg440= | |
| ENST00000310778.5:c.1476A>G | ENSP00000309392.5:p.Arg492= | |
| ENST00000341193.9:c.1269A>G | ENSP00000343170.5:p.Arg423= | |
| ENST00000347901.8:c.1320A>G | ENSP00000334002.4:p.Arg440= | |
| ENST00000393939.6:c.1245A>G | ENSP00000377513.2:p.Arg415= | |
| NM_001079870.1:c.1269A>G | NP_001073339.1:p.Arg423= | |
| NM_001079871.1:c.1245A>G | NP_001073340.1:p.Arg415= | |
| NM_177977.2:c.1320A>G | NP_817084.2:p.Arg440= | |
| NM_001367459.1:c.1416A>G | NP_001354388.1:p.Arg472= | |
| NM_001367460.1:c.1380A>G | NP_001354389.1:p.Arg460= | |
| NM_001367461.1:c.1245A>G | NP_001354390.1:p.Arg415= | |
| NM_001367462.1:c.1245A>G | NP_001354391.1:p.Arg415= | |
| NM_177977.3:c.1320A>G MANE Select | NP_817084.2:p.Arg440= |