Linked Data
ClinVar Variation Id:
741906
ClinVar RCV Id:
RCV000918114
dbSNP Id:
rs187578466
ExAC:
4:88533482 A / G
gnomAD v2:
4-88533482-A-G
gnomAD v3:
4-87612330-A-G
gnomAD v4:
4-87612330-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612330A>G , CM000666.2:g.87612330A>G | GRCh38 |
| NC_000004.11:g.88533482A>G , CM000666.1:g.88533482A>G | GRCh37 |
| NC_000004.10:g.88752506A>G | NCBI36 |
| NG_011595.1:g.8802A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.144A>G MANE Select | ENSP00000498766.1:p.Leu48= | |
| ENST00000282478.7:c.144A>G | ENSP00000282478.7:p.Leu48= | |
| ENST00000399271.5:c.144A>G | ENSP00000382213.1:p.Leu48= | |
| NM_014208.3:c.144A>G MANE Select | NP_055023.2:p.Leu48= |