Linked Data
dbSNP Id:
rs557767875
ExAC:
2:21238331 T / C
gnomAD v2:
2-21238331-T-C
gnomAD v3:
2-21015459-T-C
gnomAD v4:
2-21015459-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21015459T>C , CM000664.2:g.21015459T>C | GRCh38 |
| NC_000002.11:g.21238331T>C , CM000664.1:g.21238331T>C | GRCh37 |
| NC_000002.10:g.21091836T>C | NCBI36 |
| NG_011793.1:g.33615A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*2725A>G | ENSP00000501110.2:n.*2725A>G | |
| ENST00000673882.2:c.*2514A>G | ENSP00000501253.2:n.*2514A>G | |
| ENST00000673739.1:c.3133A>G | ENSP00000501110.1:n.3133A>G | |
| ENST00000673882.1:c.2922A>G | ENSP00000501253.1:n.2922A>G | |
| ENST00000233242.5:c.3419A>G MANE Select | ENSP00000233242.1:p.His1140Arg | |
| ENST00000616098.4:c.3419A>G | ENSP00000477990.1:p.His1140Arg | |
| NM_000384.2:c.3419A>G | NP_000375.2:p.His1140Arg | |
| XM_011532809.1:c.3419A>G | XP_011531111.1:p.His1140Arg | |
| NM_000384.3:c.3419A>G MANE Select | NP_000375.3:p.His1140Arg |