Linked Data
ClinVar Variation Id:
219006
dbSNP Id:
rs746219370
ExAC:
12:109998857 C / T
gnomAD v2:
12-109998857-C-T
gnomAD v3:
12-109561052-C-T
gnomAD v4:
12-109561052-C-T
PubMed:
PMID:20301409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109561052C>T , CM000674.2:g.109561052C>T | GRCh38 |
| NC_000012.11:g.109998857C>T , CM000674.1:g.109998857C>T | GRCh37 |
| NC_000012.10:g.108483240C>T | NCBI36 |
| NG_007096.1:g.17446G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545712.7:c.572G>A MANE Select | ENSP00000445920.1:p.Arg191Gln | |
| ENST00000537496.5:c.*137G>A | ENSP00000444793.1:n.*137G>A | |
| ENST00000540016.5:c.416G>A | ENSP00000474582.1:p.Arg139Gln | |
| ENST00000541763.6:c.797G>A | ENSP00000474981.1:n.797G>A | |
| ENST00000544051.5:c.*453G>A | ENSP00000438079.1:n.*453G>A | |
| ENST00000545712.6:c.572G>A | ENSP00000445920.1:p.Arg191Gln | |
| NM_052845.3:c.572G>A | NP_443077.1:p.Arg191Gln | |
| NR_038118.1:n.732G>A | ||
| XM_011538266.1:c.417G>A | XP_011536568.1:p.Pro139= | |
| XM_011538267.1:c.417G>A | XP_011536569.1:p.Pro139= | |
| XM_011538268.1:c.299G>A | XP_011536570.1:p.Arg100Gln | |
| XM_011538269.1:c.296G>A | XP_011536571.1:p.Arg99Gln | |
| XM_011538267.3:c.417G>A | XP_011536569.1:p.Pro139= | |
| XM_011538268.2:c.299G>A | XP_011536570.1:p.Arg100Gln | |
| XM_011538269.2:c.296G>A | XP_011536571.1:p.Arg99Gln | |
| XM_024448961.1:c.572G>A | XP_024304729.1:p.Arg191Gln | |
| NM_052845.4:c.572G>A MANE Select | NP_443077.1:p.Arg191Gln | |
| NR_038118.2:n.683G>A |