Linked Data
dbSNP Id:
rs756829992
ExAC:
17:42988751 G / T
gnomAD v2:
17-42988751-G-T
gnomAD v3:
17-44911383-G-T
gnomAD v4:
17-44911383-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44911383G>T , CM000679.2:g.44911383G>T | GRCh38 |
| NC_000017.10:g.42988751G>T , CM000679.1:g.42988751G>T | GRCh37 |
| NC_000017.9:g.40344277G>T | NCBI36 |
| NG_008401.1:g.9164C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253408.11:c.980C>A | ENSP00000253408.5:p.Ala327Glu | |
| ENST00000435360.8:c.980C>A | ENSP00000403962.1:p.Ala327Glu | |
| ENST00000253408.10:c.980C>A | ENSP00000253408.5:p.Ala327Glu | |
| ENST00000435360.7:c.980C>A | ENSP00000403962.1:p.Ala327Glu | |
| ENST00000585543.6:n.133C>A | ||
| ENST00000586127.6:n.1509C>A | ||
| ENST00000586793.6:c.907-62C>A | ENSP00000468500.2:n.907-62C>A | |
| ENST00000587997.6:n.456C>A | ||
| ENST00000588735.3:c.980C>A MANE Select | ENSP00000466598.2:p.Ala327Glu | |
| ENST00000591327.2:n.2134C>A | ||
| ENST00000592320.6:c.619-62C>A | ENSP00000465320.1:n.619-62C>A | |
| ENST00000638281.1:c.980C>A | ENSP00000491088.1:p.Ala327Glu | |
| ENST00000638618.1:c.635C>A | ENSP00000492832.1:p.Ala212Glu | |
| ENST00000639277.1:c.980C>A | ENSP00000492432.1:p.Ala327Glu | |
| ENST00000640552.1:n.994C>A | ||
| ENST00000253408.9:c.980C>A | ENSP00000253408.4:p.Ala327Glu | |
| ENST00000376990.8:c.*379C>A | ENSP00000366189.4:n.*379C>A | |
| ENST00000435360.6:c.980C>A | ENSP00000403962.1:p.Ala327Glu | |
| ENST00000585543.5:n.133C>A | ||
| ENST00000586793.5:c.980C>A | ENSP00000468500.1:p.Ala327Glu | |
| ENST00000587997.5:c.456C>A | ||
| ENST00000588640.5:n.360C>A | ||
| ENST00000588735.1:c.83-3267C>A | ENSP00000466598.1:n.83-3267C>A | |
| ENST00000592320.5:c.619-62C>A | ENSP00000465320.1:n.619-62C>A | |
| NM_001131019.2:c.980C>A | NP_001124491.1:p.Ala327Glu | |
| NM_001242376.1:c.980C>A | NP_001229305.1:p.Ala327Glu | |
| NM_002055.4:c.980C>A | NP_002046.1:p.Ala327Glu | |
| NM_001363846.1:c.980C>A | NP_001350775.1:p.Ala327Glu | |
| XM_024450690.1:c.1184C>A | XP_024306458.1:p.Ala395Glu | |
| XM_024450691.1:c.1184C>A | XP_024306459.1:p.Ala395Glu | |
| XM_024450692.1:c.1184C>A | XP_024306460.1:p.Ala395Glu | |
| XM_024450693.1:c.1184C>A | XP_024306461.1:p.Ala395Glu | |
| NM_002055.5:c.980C>A MANE Select | NP_002046.1:p.Ala327Glu | |
| NM_001131019.3:c.980C>A | NP_001124491.1:p.Ala327Glu | |
| NM_001242376.2:c.980C>A | NP_001229305.1:p.Ala327Glu | |
| NM_001242376.3:c.980C>A | NP_001229305.1:p.Ala327Glu | |
| NM_001363846.2:c.980C>A | NP_001350775.1:p.Ala327Glu |