Linked Data
ClinVar Variation Id:
190226
dbSNP Id:
rs786205215
gnomAD v4:
17-58363582-G-A
COSMIC:
COSM981870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58363582G>A , CM000679.2:g.58363582G>A | GRCh38 |
| NC_000017.10:g.56440943G>A , CM000679.1:g.56440943G>A | GRCh37 |
| NC_000017.9:g.53795942G>A | NCBI36 |
| NG_042894.1:g.59001C>T , LRG_1026:g.59001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407977.7:c.394C>T MANE Select | ENSP00000385328.2:p.Arg132Ter | |
| ENST00000648873.1:c.394C>T | ENSP00000497686.1:p.Arg132Ter | |
| ENST00000407977.6:c.394C>T | ENSP00000385328.2:p.Arg132Ter | |
| ENST00000577625.5:c.13C>T | ENSP00000463716.1:p.Arg5Ter | |
| ENST00000577716.5:c.394C>T | ENSP00000462764.1:p.Arg132Ter | |
| ENST00000581868.1:c.13C>T | ENSP00000462447.1:p.Arg5Ter | |
| ENST00000582293.1:n.11C>T | ||
| ENST00000583753.5:c.271C>T | ENSP00000462502.1:p.Arg91Ter | |
| ENST00000584437.5:c.394C>T | ENSP00000463069.1:p.Arg132Ter | |
| NM_001305544.1:c.394C>T | NP_001292473.1:p.Arg132Ter | |
| NM_001305545.1:c.13C>T | NP_001292474.1:p.Arg5Ter | |
| NM_017763.4:c.394C>T | NP_060233.3:p.Arg132Ter | |
| NM_017763.5:c.394C>T , LRG_1026t1:c.394C>T | NP_060233.3:p.Arg132Ter | |
| XM_011524954.1:c.394C>T | XP_011523256.1:p.Arg132Ter | |
| XM_011524955.1:c.394C>T | XP_011523257.1:p.Arg132Ter | |
| XM_011524956.1:c.13C>T | XP_011523258.1:p.Arg5Ter | |
| XM_011524955.3:c.394C>T | XP_011523257.1:p.Arg132Ter | |
| XM_011524956.3:c.13C>T | XP_011523258.1:p.Arg5Ter | |
| XM_017024800.2:c.394C>T | XP_016880289.1:p.Arg132Ter | |
| NM_001305544.2:c.394C>T | NP_001292473.1:p.Arg132Ter | |
| NM_017763.6:c.394C>T MANE Select | NP_060233.3:p.Arg132Ter |