Linked Data
dbSNP Id:
rs912510391
gnomAD v2:
8-27464555-C-A
gnomAD v3:
8-27607038-C-A
gnomAD v4:
8-27607038-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27607038C>A , CM000670.2:g.27607038C>A | GRCh38 |
| NC_000008.10:g.27464555C>A , CM000670.1:g.27464555C>A | GRCh37 |
| NC_000008.9:g.27520472C>A | NCBI36 |
| NG_027845.1:g.12773G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316403.15:c.247-514G>T MANE Select | ENSP00000315130.10:n.247-514G>T | |
| ENST00000316403.14:c.247-514G>T | ENSP00000315130.10:n.247-514G>T | |
| ENST00000405140.7:c.247-514G>T | ENSP00000385419.3:n.247-514G>T | |
| ENST00000519742.5:c.247-514G>T | ENSP00000431026.1:n.247-514G>T | |
| ENST00000520491.5:c.247-514G>T | ENSP00000429881.1:n.247-514G>T | |
| ENST00000520796.5:c.247-514G>T | ENSP00000429336.1:n.247-514G>T | |
| ENST00000522299.5:n.315-514G>T | ||
| ENST00000522413.5:c.247-514G>T | ENSP00000428779.1:n.247-514G>T | |
| ENST00000523500.5:c.247-514G>T | ENSP00000429620.1:n.247-514G>T | |
| ENST00000523589.5:c.247-514G>T | ENSP00000431070.1:n.247-514G>T | |
| ENST00000560566.5:c.280-514G>T | ENSP00000453247.1:n.280-514G>T | |
| NM_001831.3:c.247-514G>T | NP_001822.3:n.247-514G>T | |
| NR_038335.1:n.568-514G>T | ||
| NR_045494.1:n.427-514G>T | ||
| XM_006716284.1:c.403-514G>T | XP_006716347.1:n.403-514G>T | |
| XM_006716284.3:c.403-514G>T | XP_006716347.1:n.403-514G>T | |
| NM_001831.4:c.247-514G>T MANE Select | NP_001822.3:n.247-514G>T | |
| NR_038335.2:n.502-514G>T |