Linked Data
ClinVar Variation Id:
499390
dbSNP Id:
rs779326282
ExAC:
11:45937823 G / A
gnomAD v2:
11-45937823-G-A
gnomAD v3:
11-45916272-G-A
gnomAD v4:
11-45916272-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45916272G>A , CM000673.2:g.45916272G>A | GRCh38 |
| NC_000011.9:g.45937823G>A , CM000673.1:g.45937823G>A | GRCh37 |
| NC_000011.8:g.45894399G>A | NCBI36 |
| NG_008460.1:g.6852C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.180C>T MANE Select | ENSP00000368024.5:p.Leu60= | |
| ENST00000241041.7:c.180C>T | ENSP00000241041.3:p.Leu60= | |
| ENST00000378750.9:c.180C>T | ENSP00000368024.5:p.Leu60= | |
| ENST00000525192.5:c.-106C>T | ENSP00000431309.1:n.-106C>T | |
| ENST00000525229.5:c.*133C>T | ENSP00000431132.1:n.*133C>T | |
| ENST00000528674.5:c.*79C>T | ENSP00000434060.1:n.*79C>T | |
| ENST00000529030.1:c.*165C>T | ENSP00000432486.1:n.*165C>T | |
| ENST00000532554.5:n.131-704C>T | ||
| ENST00000532681.5:c.-106C>T | ENSP00000434654.1:n.-106C>T | |
| ENST00000533151.5:c.148+1186C>T | ENSP00000433045.1:n.148+1186C>T | |
| NM_004813.2:c.180C>T | NP_004804.1:p.Leu60= | |
| NM_057174.2:c.180C>T | NP_476515.1:p.Leu60= | |
| XM_011520474.1:c.57C>T | XP_011518776.1:p.Leu19= | |
| NM_004813.3:c.180C>T | NP_004804.1:p.Leu60= | |
| NM_004813.4:c.180C>T MANE Select | NP_004804.2:p.Leu60= | |
| NM_057174.3:c.180C>T | NP_476515.2:p.Leu60= |