Linked Data
dbSNP Id:
rs1365978691
gnomAD v3:
19-41410991-C-G
gnomAD v4:
19-41410991-C-G
MyVariant Identifiers:
chr19:g.41916896C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41410991C>G , CM000681.2:g.41410991C>G | GRCh38 |
| NC_000019.9:g.41916896C>G , CM000681.1:g.41916896C>G | GRCh37 |
| NC_000019.8:g.46608736C>G | NCBI36 |
| NG_013004.1:g.18203C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.357C>G MANE Select | ENSP00000269980.2:p.Leu119= | |
| ENST00000269980.6:c.357C>G | ENSP00000269980.2:p.Leu119= | |
| ENST00000457836.6:c.291C>G | ENSP00000416000.2:p.Leu97= | |
| ENST00000538423.5:n.483C>G | ||
| ENST00000540732.3:c.459C>G | ENSP00000443246.1:p.Leu153= | |
| ENST00000541315.1:c.164C>G | ||
| ENST00000542943.5:c.288+175C>G | ENSP00000440345.1:n.288+175C>G | |
| ENST00000595085.5:c.357C>G | ENSP00000471150.2:p.Leu119= | |
| NM_000709.3:c.357C>G | NP_000700.1:p.Leu119= | |
| NM_001164783.1:c.357C>G | NP_001158255.1:p.Leu119= | |
| NM_000709.4:c.357C>G MANE Select | NP_000700.1:p.Leu119= | |
| NM_001164783.2:c.357C>G | NP_001158255.1:p.Leu119= |