Linked Data
ClinVar Variation Id:
225186
ClinVar RCV Id:
RCV000210838
dbSNP Id:
rs869320654
gnomAD v4:
12-109561061-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109561061A>C , CM000674.2:g.109561061A>C | GRCh38 |
| NC_000012.11:g.109998866A>C , CM000674.1:g.109998866A>C | GRCh37 |
| NC_000012.10:g.108483249A>C | NCBI36 |
| NG_007096.1:g.17437T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545712.7:c.563T>G MANE Select | ENSP00000445920.1:p.Val188Gly | |
| ENST00000537496.5:c.*128T>G | ENSP00000444793.1:n.*128T>G | |
| ENST00000540016.5:c.407T>G | ENSP00000474582.1:p.Val136Gly | |
| ENST00000541763.6:c.788T>G | ENSP00000474981.1:n.788T>G | |
| ENST00000544051.5:c.*444T>G | ENSP00000438079.1:n.*444T>G | |
| ENST00000545712.6:c.563T>G | ENSP00000445920.1:p.Val188Gly | |
| NM_052845.3:c.563T>G | NP_443077.1:p.Val188Gly | |
| NR_038118.1:n.723T>G | ||
| XM_011538266.1:c.408T>G | XP_011536568.1:p.Arg136= | |
| XM_011538267.1:c.408T>G | XP_011536569.1:p.Arg136= | |
| XM_011538268.1:c.290T>G | XP_011536570.1:p.Val97Gly | |
| XM_011538269.1:c.287T>G | XP_011536571.1:p.Val96Gly | |
| XM_011538267.3:c.408T>G | XP_011536569.1:p.Arg136= | |
| XM_011538268.2:c.290T>G | XP_011536570.1:p.Val97Gly | |
| XM_011538269.2:c.287T>G | XP_011536571.1:p.Val96Gly | |
| XM_024448961.1:c.563T>G | XP_024304729.1:p.Val188Gly | |
| NM_052845.4:c.563T>G MANE Select | NP_443077.1:p.Val188Gly | |
| NR_038118.2:n.674T>G |