Linked Data
dbSNP Id:
rs190966689
ExAC:
1:155260443 C / T
gnomAD v2:
1-155260443-C-T
gnomAD v3:
1-155290652-C-T
gnomAD v4:
1-155290652-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155290652C>T , CM000663.2:g.155290652C>T | GRCh38 |
| NC_000001.10:g.155260443C>T , CM000663.1:g.155260443C>T | GRCh37 |
| NC_000001.9:g.153527067C>T | NCBI36 |
| NG_011677.1:g.15783G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.1645G>A MANE Select | ENSP00000339933.4:p.Gly549Arg | |
| ENST00000342741.4:c.1645G>A | ENSP00000339933.4:p.Gly549Arg | |
| ENST00000392414.7:c.1552G>A | ENSP00000376214.3:p.Gly518Arg | |
| NM_000298.5:c.1645G>A | NP_000289.1:p.Gly549Arg | |
| NM_181871.3:c.1552G>A | NP_870986.1:p.Gly518Arg | |
| XM_005245266.3:c.1804G>A | XP_005245323.1:p.Gly602Arg | |
| XM_006711386.2:c.1453G>A | XP_006711449.1:p.Gly485Arg | |
| XM_011509640.1:c.1453G>A | XP_011507942.1:p.Gly485Arg | |
| NM_000298.6:c.1645G>A MANE Select | NP_000289.1:p.Gly549Arg | |
| XM_006711386.4:c.1453G>A | XP_006711449.1:p.Gly485Arg | |
| XM_011509640.3:c.1453G>A | XP_011507942.1:p.Gly485Arg | |
| NM_181871.4:c.1552G>A | NP_870986.1:p.Gly518Arg |