Linked Data
dbSNP Id:
rs104894248
ExAC:
11:17408863 T / C
gnomAD v2:
11-17408863-T-C
gnomAD v3:
11-17387316-T-C
gnomAD v4:
11-17387316-T-C
PubMed:
PMID:15998776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387316T>C , CM000673.2:g.17387316T>C | GRCh38 |
| NC_000011.9:g.17408863T>C , CM000673.1:g.17408863T>C | GRCh37 |
| NC_000011.8:g.17365439T>C | NCBI36 |
| NG_012446.1:g.6344A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682350.1:c.515A>G | ENSP00000508090.1:p.His172Arg | |
| ENST00000682764.1:c.515A>G | ENSP00000506780.1:p.His172Arg | |
| ENST00000339994.5:c.776A>G MANE Select | ENSP00000345708.4:p.His259Arg | |
| ENST00000339994.4:c.776A>G | ENSP00000345708.4:p.His259Arg | |
| ENST00000528731.1:c.515A>G | ENSP00000434755.1:p.His172Arg | |
| NM_000525.3:c.776A>G | NP_000516.3:p.His259Arg | |
| NM_001166290.1:c.515A>G | NP_001159762.1:p.His172Arg | |
| XM_006718226.2:c.515A>G | XP_006718289.1:p.His172Arg | |
| XR_930867.1:n.934A>G | ||
| XM_006718226.3:c.515A>G | XP_006718289.1:p.His172Arg | |
| XM_017017680.1:c.515A>G | XP_016873169.1:p.His172Arg | |
| NM_001166290.2:c.515A>G | NP_001159762.1:p.His172Arg | |
| NM_001377296.1:c.515A>G | NP_001364225.1:p.His172Arg | |
| NM_001377297.1:c.515A>G | NP_001364226.1:p.His172Arg | |
| NM_000525.4:c.776A>G MANE Select | NP_000516.3:p.His259Arg |