Linked Data
dbSNP Id:
rs138441972
gnomAD v3:
1-42927722-T-G
gnomAD v4:
1-42927722-T-G
MyVariant Identifiers:
chr1:g.43393393T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927722T>G , CM000663.2:g.42927722T>G | GRCh38 |
| NC_000001.10:g.43393393T>G , CM000663.1:g.43393393T>G | GRCh37 |
| NC_000001.9:g.43165980T>G | NCBI36 |
| NG_008232.1:g.36455A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1161A>C MANE Select | ENSP00000416293.2:p.Pro387= | |
| ENST00000674545.1:n.1778A>C | ||
| ENST00000674765.1:c.1030-865A>C | ENSP00000501811.1:n.1030-865A>C | |
| ENST00000675112.1:n.1462A>C | ||
| ENST00000676254.1:n.1610A>C | ||
| ENST00000426263.7:c.1161A>C | ENSP00000416293.2:p.Pro387= | |
| ENST00000475162.3:c.416-744A>C | ||
| ENST00000630287.2:c.*476A>C | ENSP00000486694.1:n.*476A>C | |
| NM_006516.2:c.1161A>C | NP_006507.2:p.Pro387= | |
| NM_006516.3:c.1161A>C | NP_006507.2:p.Pro387= | |
| NM_006516.4:c.1161A>C MANE Select | NP_006507.2:p.Pro387= |