Linked Data
dbSNP Id:
rs950577318
gnomAD v2:
21-45753014-A-T
gnomAD v3:
21-44333131-A-T
gnomAD v4:
21-44333131-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44333131A>T , CM000683.2:g.44333131A>T | GRCh38 |
| NC_000021.8:g.45753014A>T , CM000683.1:g.45753014A>T | GRCh37 |
| NC_000021.7:g.44577442A>T | NCBI36 |
| NG_032952.1:g.11272T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339818.9:c.275T>A MANE Select | ENSP00000344566.4:p.Leu92Gln | |
| ENST00000325223.7:c.275T>A | ENSP00000317302.7:p.Leu92Gln | |
| ENST00000339818.8:c.275T>A | ENSP00000344566.4:p.Leu92Gln | |
| ENST00000397956.7:c.275T>A | ENSP00000381047.3:p.Leu92Gln | |
| ENST00000462742.1:n.2446T>A | ||
| ENST00000478674.1:n.334T>A | ||
| ENST00000496321.5:n.391T>A | ||
| NM_001271440.1:c.275T>A | NP_001258369.1:p.Leu92Gln | |
| NM_001271441.1:c.275T>A | NP_001258370.1:p.Leu92Gln | |
| NM_001271442.1:c.152T>A | NP_001258371.1:p.Leu51Gln | |
| NM_004928.2:c.275T>A | NP_004919.1:p.Leu92Gln | |
| XM_006724051.2:c.350T>A | XP_006724114.1:p.Leu117Gln | |
| XM_006724052.2:c.350T>A | XP_006724115.1:p.Leu117Gln | |
| XM_006724053.2:c.-50T>A | XP_006724116.1:n.-50T>A | |
| XR_937571.1:n.478T>A | ||
| XM_006724051.3:c.350T>A | XP_006724114.1:p.Leu117Gln | |
| XM_006724053.3:c.-50T>A | XP_006724116.1:n.-50T>A | |
| XM_017028470.1:c.479T>A | XP_016883959.1:p.Leu160Gln | |
| XM_017028471.1:c.224T>A | XP_016883960.1:p.Leu75Gln | |
| XM_017028472.1:c.-50T>A | XP_016883961.1:n.-50T>A | |
| XR_937571.2:n.485T>A | ||
| NM_004928.3:c.275T>A MANE Select | NP_004919.1:p.Leu92Gln | |
| NM_001271440.2:c.275T>A | NP_001258369.1:p.Leu92Gln | |
| NM_001271441.2:c.275T>A | NP_001258370.1:p.Leu92Gln |