Linked Data
dbSNP Id:
rs1643478456
gnomAD v3:
1-42930629-G-C
gnomAD v4:
1-42930629-G-C
MyVariant Identifiers:
chr1:g.43396300G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930629G>C , CM000663.2:g.42930629G>C | GRCh38 |
| NC_000001.10:g.43396300G>C , CM000663.1:g.43396300G>C | GRCh37 |
| NC_000001.9:g.43168887G>C | NCBI36 |
| NG_008232.1:g.33548C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426263.10:c.513C>G MANE Select | ENSP00000416293.2:p.Ala171= | |
| ENST00000674765.1:c.513C>G | ENSP00000501811.1:p.Ala171= | |
| ENST00000675112.1:n.536C>G | ||
| ENST00000676254.1:n.962C>G | ||
| ENST00000426263.7:c.513C>G | ENSP00000416293.2:p.Ala171= | |
| ENST00000439722.2:c.392C>G | ENSP00000395521.2:n.392C>G | |
| ENST00000475162.3:c.412C>G | ||
| ENST00000625233.2:n.721C>G | ||
| ENST00000630287.2:c.513C>G | ENSP00000486694.1:p.Ala171= | |
| NM_006516.2:c.513C>G | NP_006507.2:p.Ala171= | |
| NM_006516.3:c.513C>G | NP_006507.2:p.Ala171= | |
| NM_006516.4:c.513C>G MANE Select | NP_006507.2:p.Ala171= |