Linked Data
ClinVar Variation Id:
379238
ClinVar RCV Id:
RCV000444636
dbSNP Id:
rs1057520537
gnomAD v2:
2-74689115-G-A
gnomAD v3:
2-74461988-G-A
gnomAD v4:
2-74461988-G-A
COSMIC:
COSM4095764
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74461988G>A , CM000664.2:g.74461988G>A | GRCh38 |
| NC_000002.11:g.74689115G>A , CM000664.1:g.74689115G>A | GRCh37 |
| NC_000002.10:g.74542623G>A | NCBI36 |
| NG_008922.1:g.8423C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000690565.1:c.1801C>T | ENSP00000510501.1:p.Arg601Ter | |
| ENST00000691308.1:c.1021C>T | ENSP00000509583.1:p.Arg341Ter | |
| ENST00000448666.7:c.1801C>T MANE Select | ENSP00000410992.3:p.Arg601Ter | |
| ENST00000452063.7:c.1483C>T | ENSP00000388201.2:p.Arg495Ter | |
| ENST00000462443.2:c.976C>T | ENSP00000497265.1:p.Arg326Ter | |
| ENST00000647723.1:c.1744C>T | ||
| ENST00000647753.1:c.*1094C>T | ENSP00000497318.1:n.*1094C>T | |
| ENST00000647771.1:c.*1289C>T | ENSP00000496788.1:n.*1289C>T | |
| ENST00000647915.1:c.*1094C>T | ENSP00000498123.1:n.*1094C>T | |
| ENST00000648768.1:n.2058C>T | ||
| ENST00000648810.1:c.976C>T | ENSP00000496949.1:p.Arg326Ter | |
| ENST00000649075.1:c.*729C>T | ENSP00000497836.1:n.*729C>T | |
| ENST00000649601.1:c.*981C>T | ENSP00000496796.1:n.*981C>T | |
| ENST00000649777.1:n.2010C>T | ||
| ENST00000649854.1:c.1434C>T | ||
| ENST00000233616.8:c.1801C>T | ENSP00000233616.4:p.Arg601Ter | |
| ENST00000409065.5:c.*981C>T | ENSP00000386493.1:n.*981C>T | |
| ENST00000452063.6:c.1483C>T | ENSP00000388201.2:p.Arg495Ter | |
| ENST00000462189.1:n.1482C>T | ||
| NM_001146158.1:c.1483C>T | NP_001139630.1:p.Arg495Ter | |
| NM_006302.2:c.1801C>T | NP_006293.2:p.Arg601Ter | |
| NM_006302.3:c.1801C>T MANE Select | NP_006293.2:p.Arg601Ter | |
| NM_001146158.2:c.1483C>T | NP_001139630.1:p.Arg495Ter |