Linked Data
dbSNP Id:
rs147110934
ExAC:
19:55993436 G / T
gnomAD v2:
19-55993436-G-T
gnomAD v3:
19-55482069-G-T
gnomAD v4:
19-55482069-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55482069G>T , CM000681.2:g.55482069G>T | GRCh38 |
| NC_000019.9:g.55993436G>T , CM000681.1:g.55993436G>T | GRCh37 |
| NC_000019.8:g.60685248G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000598519.2:c.876G>T MANE Select | ENSP00000469591.1:p.Glu292Asp | |
| ENST00000391718.3:c.873G>T | ENSP00000375598.3:p.Glu291Asp | |
| ENST00000598519.1:c.876G>T | ENSP00000469591.1:p.Glu292Asp | |
| NM_033113.2:c.876G>T | NP_149104.3:p.Glu292Asp | |
| XM_005259371.2:c.864G>T | XP_005259428.1:p.Glu288Asp | |
| XM_005259371.3:c.864G>T | XP_005259428.1:p.Glu288Asp | |
| XM_024451752.1:c.876G>T | XP_024307520.1:p.Glu292Asp | |
| NM_033113.3:c.876G>T MANE Select | NP_149104.3:p.Glu292Asp |