Linked Data
ClinVar Variation Id:
98530
ClinVar RCV Id:
RCV000084821
dbSNP Id:
rs367543244
gnomAD v4:
20-37402557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.37402557C>T , CM000682.2:g.37402557C>T | GRCh38 |
| NC_000020.10:g.36030960C>T , CM000682.1:g.36030960C>T | GRCh37 |
| NC_000020.9:g.35464374C>T | NCBI36 |
| NG_023033.1:g.62873C>T , LRG_1018:g.62873C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358208.9:c.1290C>T | ENSP00000350941.5:p.Leu430= | |
| ENST00000692112.1:c.1239C>T | ENSP00000508666.1:p.Leu413= | |
| ENST00000692423.1:c.1239C>T | ENSP00000509325.1:p.Leu413= | |
| ENST00000373578.7:c.1239C>T MANE Select | ENSP00000362680.2:p.Leu413= | |
| ENST00000358208.8:c.1239C>T | ENSP00000350941.4:p.Leu413= | |
| ENST00000373558.2:c.1257C>T | ENSP00000362659.2:p.Leu419= | |
| ENST00000373567.6:c.1239C>T | ENSP00000362668.2:p.Leu413= | |
| ENST00000373578.6:c.1239C>T | ENSP00000362680.2:p.Leu413= | |
| ENST00000477066.5:n.885C>T | ||
| ENST00000493775.1:n.245C>T | ||
| NM_005417.4:c.1239C>T | NP_005408.1:p.Leu413= | |
| NM_198291.2:c.1239C>T , LRG_1018t1:c.1239C>T | NP_938033.1:p.Leu413= | |
| XM_011529013.1:c.1239C>T | XP_011527315.1:p.Leu413= | |
| XM_011529014.1:c.1239C>T | XP_011527316.1:p.Leu413= | |
| XM_011529013.2:c.1239C>T | XP_011527315.1:p.Leu413= | |
| XM_017028024.1:c.1257C>T | XP_016883513.1:p.Leu419= | |
| XM_017028025.1:c.1257C>T | XP_016883514.1:p.Leu419= | |
| XM_017028026.1:c.1257C>T | XP_016883515.1:p.Leu419= | |
| XM_017028027.2:c.1257C>T | XP_016883516.1:p.Leu419= | |
| NM_005417.5:c.1239C>T | NP_005408.1:p.Leu413= | |
| NM_198291.3:c.1239C>T MANE Select | NP_938033.1:p.Leu413= |