Linked Data
dbSNP Id:
rs10516799
gnomAD v2:
4-88903193-C-G
gnomAD v3:
4-87982041-C-G
gnomAD v4:
4-87982041-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87982041C>G , CM000666.2:g.87982041C>G | GRCh38 |
| NC_000004.11:g.88903193C>G , CM000666.1:g.88903193C>G | GRCh37 |
| NC_000004.10:g.89122217C>G | NCBI36 |
| NG_030362.1:g.11392C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000508233.6:c.417+243C>G | ENSP00000422973.2:n.417+243C>G | |
| ENST00000614857.5:c.540+243C>G | ENSP00000477824.2:n.540+243C>G | |
| ENST00000681973.1:n.767+243C>G | ||
| ENST00000682026.1:n.493+243C>G | ||
| ENST00000682448.1:n.2026+243C>G | ||
| ENST00000682554.1:n.1988+243C>G | ||
| ENST00000682599.1:n.3028+243C>G | ||
| ENST00000682627.1:n.460+243C>G | ||
| ENST00000682865.1:n.824+243C>G | ||
| ENST00000683087.1:n.554+243C>G | ||
| ENST00000683168.1:n.1294+243C>G | ||
| ENST00000683620.1:n.1722+243C>G | ||
| ENST00000684106.1:n.2790+243C>G | ||
| ENST00000684450.1:n.1599+243C>G | ||
| ENST00000684710.1:n.1831+243C>G | ||
| ENST00000395080.8:c.540+243C>G MANE Select | ENSP00000378517.3:n.540+243C>G | |
| ENST00000237623.11:c.498+243C>G | ENSP00000237623.7:n.498+243C>G | |
| ENST00000360804.4:c.459+243C>G | ENSP00000354042.4:n.459+243C>G | |
| ENST00000395080.7:c.540+243C>G | ENSP00000378517.3:n.540+243C>G | |
| ENST00000508233.5:c.417+243C>G | ENSP00000422973.1:n.417+243C>G | |
| ENST00000509659.5:n.829+243C>G | ||
| ENST00000614857.4:c.474+243C>G | ENSP00000477824.1:n.474+243C>G | |
| NM_000582.2:c.498+243C>G | NP_000573.1:n.498+243C>G | |
| NM_001040058.1:c.540+243C>G | NP_001035147.1:n.540+243C>G | |
| NM_001040060.1:c.459+243C>G | NP_001035149.1:n.459+243C>G | |
| NM_001251829.1:c.417+243C>G | NP_001238758.1:n.417+243C>G | |
| NM_001251830.1:c.579+243C>G | NP_001238759.1:n.579+243C>G | |
| NM_001040058.2:c.540+243C>G MANE Select | NP_001035147.1:n.540+243C>G | |
| NM_000582.3:c.498+243C>G | NP_000573.1:n.498+243C>G | |
| NM_001040060.2:c.459+243C>G | NP_001035149.1:n.459+243C>G | |
| NM_001251829.2:c.417+243C>G | NP_001238758.1:n.417+243C>G | |
| NM_001251830.2:c.579+243C>G | NP_001238759.1:n.579+243C>G |