Linked Data
dbSNP Id:
rs780853763
ExAC:
1:43393453 C / G
gnomAD v2:
1-43393453-C-G
gnomAD v4:
1-42927782-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927782C>G , CM000663.2:g.42927782C>G | GRCh38 |
| NC_000001.10:g.43393453C>G , CM000663.1:g.43393453C>G | GRCh37 |
| NC_000001.9:g.43166040C>G | NCBI36 |
| NG_008232.1:g.36395G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1101G>C MANE Select | ENSP00000416293.2:p.Leu367= | |
| ENST00000674545.1:n.1718G>C | ||
| ENST00000674765.1:c.1030-925G>C | ENSP00000501811.1:n.1030-925G>C | |
| ENST00000675112.1:n.1402G>C | ||
| ENST00000676254.1:n.1550G>C | ||
| ENST00000426263.7:c.1101G>C | ENSP00000416293.2:p.Leu367= | |
| ENST00000475162.3:c.416-804G>C | ||
| ENST00000630287.2:c.*416G>C | ENSP00000486694.1:n.*416G>C | |
| NM_006516.2:c.1101G>C | NP_006507.2:p.Leu367= | |
| NM_006516.3:c.1101G>C | NP_006507.2:p.Leu367= | |
| NM_006516.4:c.1101G>C MANE Select | NP_006507.2:p.Leu367= |