Linked Data
dbSNP Id:
rs768181440
ExAC:
19:15651475 A / G
gnomAD v2:
19-15651475-A-G
gnomAD v4:
19-15540664-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15540664A>G , CM000681.2:g.15540664A>G | GRCh38 |
| NC_000019.9:g.15651475A>G , CM000681.1:g.15651475A>G | GRCh37 |
| NC_000019.8:g.15512475A>G | NCBI36 |
| NG_007987.1:g.37140A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269703.8:c.886A>G MANE Select | ENSP00000269703.1:p.Lys296Glu | |
| ENST00000269703.7:c.886A>G | ENSP00000269703.1:p.Lys296Glu | |
| ENST00000601005.2:c.886A>G | ENSP00000469866.1:p.Lys296Glu | |
| NM_173483.3:c.886A>G | NP_775754.2:p.Lys296Glu | |
| XM_011527692.1:c.886A>G | XP_011525994.1:p.Lys296Glu | |
| XM_011527693.1:c.886A>G | XP_011525995.1:p.Lys296Glu | |
| XM_011527692.2:c.886A>G | XP_011525994.1:p.Lys296Glu | |
| XM_011527693.2:c.886A>G | XP_011525995.1:p.Lys296Glu | |
| NM_173483.4:c.886A>G MANE Select | NP_775754.2:p.Lys296Glu |