Linked Data
dbSNP Id:
rs1161180332
gnomAD v2:
19-16008411-A-G
gnomAD v4:
19-15897601-A-G
COSMIC:
COSM6424819
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15897601A>G , CM000681.2:g.15897601A>G | GRCh38 |
| NC_000019.9:g.16008411A>G , CM000681.1:g.16008411A>G | GRCh37 |
| NC_000019.8:g.15869411A>G | NCBI36 |
| NG_007971.2:g.5474T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.11T>C MANE Select | ENSP00000221700.3:p.Leu4Pro | |
| ENST00000011989.11:c.11T>C | ENSP00000011989.8:p.Leu4Pro | |
| ENST00000221700.10:c.11T>C | ENSP00000221700.3:p.Leu4Pro | |
| ENST00000392846.7:n.49+425T>C | ||
| ENST00000586927.2:c.11T>C | ENSP00000465514.1:p.Leu4Pro | |
| ENST00000587671.2:c.11T>C | ENSP00000467443.2:p.Leu4Pro | |
| ENST00000608168.1:n.64T>C | ||
| NM_001082.4:c.11T>C | NP_001073.3:p.Leu4Pro | |
| NM_001082.5:c.11T>C MANE Select | NP_001073.3:p.Leu4Pro |