Linked Data
ClinVar Variation Id:
473334
dbSNP Id:
rs150607375
ExAC:
19:42863044 C / G
gnomAD v2:
19-42863044-C-G
gnomAD v3:
19-42358892-C-G
gnomAD v4:
19-42358892-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42358892C>G , CM000681.2:g.42358892C>G | GRCh38 |
| NC_000019.9:g.42863044C>G , CM000681.1:g.42863044C>G | GRCh37 |
| NC_000019.8:g.47554884C>G | NCBI36 |
| NG_033030.1:g.38284C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251268.11:c.5281C>G MANE Select | ENSP00000251268.5:p.Leu1761Val | |
| ENST00000251268.10:c.5281C>G | ENSP00000251268.5:p.Leu1761Val | |
| ENST00000334370.8:c.5080C>G | ENSP00000334219.4:p.Leu1694Val | |
| ENST00000378073.5:c.-1805C>G | ENSP00000367313.4:n.-1805C>G | |
| NM_001271938.1:c.5281C>G | NP_001258867.1:p.Leu1761Val | |
| NM_001410.2:c.5080C>G | NP_001401.2:p.Leu1694Val | |
| NM_001271938.2:c.5281C>G MANE Select | NP_001258867.1:p.Leu1761Val | |
| NM_001410.3:c.5080C>G | NP_001401.2:p.Leu1694Val |