Linked Data
dbSNP Id:
rs35390
gnomAD v2:
5-33955326-C-A
gnomAD v3:
5-33955221-C-A
gnomAD v4:
5-33955221-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33955221C>A , CM000667.2:g.33955221C>A | GRCh38 |
| NC_000005.9:g.33955326C>A , CM000667.1:g.33955326C>A | GRCh37 |
| NC_000005.8:g.33991083C>A | NCBI36 |
| NG_011691.2:g.34455G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296589.9:c.889-717G>T MANE Select | ENSP00000296589.4:n.889-717G>T | |
| ENST00000296589.8:c.889-717G>T | ENSP00000296589.4:n.889-717G>T | |
| ENST00000382102.7:c.889-717G>T | ENSP00000371534.3:n.889-717G>T | |
| ENST00000509381.1:c.563-717G>T | ENSP00000421100.1:n.563-717G>T | |
| ENST00000510600.1:c.364-717G>T | ENSP00000424010.1:n.364-717G>T | |
| NM_001012509.3:c.889-717G>T | NP_001012527.1:n.889-717G>T | |
| NM_001297417.2:c.563-717G>T | NP_001284346.2:n.563-717G>T | |
| NM_016180.4:c.889-717G>T | NP_057264.3:n.889-717G>T | |
| XM_011514051.1:c.487-717G>T | XP_011512353.1:n.487-717G>T | |
| XR_925620.1:n.1706-717G>T | ||
| NM_016180.5:c.889-717G>T MANE Select | NP_057264.4:n.889-717G>T | |
| NM_001012509.4:c.889-717G>T | NP_001012527.2:n.889-717G>T | |
| NM_001297417.3:c.563-717G>T | NP_001284346.2:n.563-717G>T | |
| NM_001297417.4:c.563-717G>T | NP_001284346.2:n.563-717G>T |