Linked Data
ClinVar Variation Id:
2573078
ClinVar RCV Id:
RCV003315192
dbSNP Id:
rs780519584
gnomAD v2:
1-43396389-T-G
gnomAD v3:
1-42930718-T-G
gnomAD v4:
1-42930718-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930718T>G , CM000663.2:g.42930718T>G | GRCh38 |
| NC_000001.10:g.43396389T>G , CM000663.1:g.43396389T>G | GRCh37 |
| NC_000001.9:g.43168976T>G | NCBI36 |
| NG_008232.1:g.33459A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.424A>C MANE Select | ENSP00000416293.2:p.Met142Leu | |
| ENST00000674765.1:c.424A>C | ENSP00000501811.1:p.Met142Leu | |
| ENST00000675112.1:n.447A>C | ||
| ENST00000676254.1:n.873A>C | ||
| ENST00000372500.4:c.328A>C | ENSP00000361578.4:p.Met110Leu | |
| ENST00000426263.7:c.424A>C | ENSP00000416293.2:p.Met142Leu | |
| ENST00000439722.2:c.303A>C | ENSP00000395521.2:n.303A>C | |
| ENST00000475162.3:c.323A>C | ||
| ENST00000625233.2:n.632A>C | ||
| ENST00000630287.2:c.424A>C | ENSP00000486694.1:p.Met142Leu | |
| NM_006516.2:c.424A>C | NP_006507.2:p.Met142Leu | |
| NM_006516.3:c.424A>C | NP_006507.2:p.Met142Leu | |
| NM_006516.4:c.424A>C MANE Select | NP_006507.2:p.Met142Leu |