Linked Data
dbSNP Id:
rs2070308709
gnomAD v3:
18-59269100-C-T
gnomAD v4:
18-59269100-C-T
MyVariant Identifiers:
chr18:g.56936332C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59269100C>T , CM000680.2:g.59269100C>T | GRCh38 |
| NC_000018.9:g.56936332C>T , CM000680.1:g.56936332C>T | GRCh37 |
| NC_000018.8:g.55087312C>T | NCBI36 |
| NG_013031.1:g.9294G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334889.4:c.945G>A MANE Select | ENSP00000334813.3:p.Leu315= | |
| ENST00000256852.7:c.*376G>A | ENSP00000256852.7:n.*376G>A | |
| ENST00000334889.3:c.945G>A | ENSP00000334813.3:p.Leu315= | |
| NM_013435.2:c.945G>A | NP_038463.2:p.Leu315= | |
| NM_013435.3:c.945G>A MANE Select | NP_038463.2:p.Leu315= |