Linked Data
dbSNP Id:
rs766970429
ExAC:
1:155260459 A / G
gnomAD v2:
1-155260459-A-G
gnomAD v4:
1-155290668-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155290668A>G , CM000663.2:g.155290668A>G | GRCh38 |
| NC_000001.10:g.155260459A>G , CM000663.1:g.155260459A>G | GRCh37 |
| NC_000001.9:g.153527083A>G | NCBI36 |
| NG_011677.1:g.15767T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.1629T>C MANE Select | ENSP00000339933.4:p.Arg543= | |
| ENST00000342741.4:c.1629T>C | ENSP00000339933.4:p.Arg543= | |
| ENST00000392414.7:c.1536T>C | ENSP00000376214.3:p.Arg512= | |
| NM_000298.5:c.1629T>C | NP_000289.1:p.Arg543= | |
| NM_181871.3:c.1536T>C | NP_870986.1:p.Arg512= | |
| XM_005245266.3:c.1788T>C | XP_005245323.1:p.Arg596= | |
| XM_006711386.2:c.1437T>C | XP_006711449.1:p.Arg479= | |
| XM_011509640.1:c.1437T>C | XP_011507942.1:p.Arg479= | |
| NM_000298.6:c.1629T>C MANE Select | NP_000289.1:p.Arg543= | |
| XM_006711386.4:c.1437T>C | XP_006711449.1:p.Arg479= | |
| XM_011509640.3:c.1437T>C | XP_011507942.1:p.Arg479= | |
| NM_181871.4:c.1536T>C | NP_870986.1:p.Arg512= |