Linked Data
ClinVar Variation Id:
2594997
ClinVar RCV Id:
RCV004338068
dbSNP Id:
rs767339630
gnomAD v2:
19-45412386-G-T
gnomAD v3:
19-44909129-G-T
gnomAD v4:
19-44909129-G-T
COSMIC:
COSM6151510
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44909129G>T , CM000681.2:g.44909129G>T | GRCh38 |
| NC_000019.9:g.45412386G>T , CM000681.1:g.45412386G>T | GRCh37 |
| NC_000019.8:g.50104226G>T | NCBI36 |
| NG_007084.2:g.8348G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.833G>T MANE Select | ENSP00000252486.3:p.Arg278Leu | |
| ENST00000252486.8:c.833G>T | ENSP00000252486.3:p.Arg278Leu | |
| NM_000041.3:c.833G>T | NP_000032.1:p.Arg278Leu | |
| NM_001302688.1:c.911G>T | NP_001289617.1:p.Arg304Leu | |
| NM_001302689.1:c.833G>T | NP_001289618.1:p.Arg278Leu | |
| NM_001302690.1:c.833G>T | NP_001289619.1:p.Arg278Leu | |
| NM_001302691.1:c.833G>T | NP_001289620.1:p.Arg278Leu | |
| NM_000041.4:c.833G>T MANE Select | NP_000032.1:p.Arg278Leu | |
| NM_001302688.2:c.911G>T | NP_001289617.1:p.Arg304Leu | |
| NM_001302689.2:c.833G>T | NP_001289618.1:p.Arg278Leu | |
| NM_001302691.2:c.833G>T | NP_001289620.1:p.Arg278Leu | |
| NM_001302690.2:c.833G>T | NP_001289619.1:p.Arg278Leu |