Linked Data
dbSNP Id:
rs4921
ExAC:
19:1093979 C / A
gnomAD v2:
19-1093979-C-A
gnomAD v3:
19-1093980-C-A
gnomAD v4:
19-1093980-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1093980C>A , CM000681.2:g.1093980C>A | GRCh38 |
| NC_000019.9:g.1093979C>A , CM000681.1:g.1093979C>A | GRCh37 |
| NC_000019.8:g.1044979C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615234.5:c.156G>T MANE Select | ENSP00000478303.1:p.Arg52= | |
| ENST00000215587.11:c.156G>T | ENSP00000215587.7:p.Arg52= | |
| ENST00000585838.2:c.3+1279G>T | ||
| ENST00000586746.5:c.156G>T | ENSP00000464739.1:p.Arg52= | |
| ENST00000586817.5:n.1396G>T | ||
| ENST00000589737.5:c.57+1279G>T | ENSP00000467905.1:n.57+1279G>T | |
| ENST00000591709.1:n.202G>T | ||
| ENST00000591767.5:c.58-77G>T | ENSP00000465066.1:n.58-77G>T | |
| ENST00000592597.1:n.190G>T | ||
| ENST00000612655.4:c.156G>T | ENSP00000485021.1:p.Arg52= | |
| ENST00000614705.4:n.195G>T | ||
| ENST00000615234.4:c.156G>T | ENSP00000478303.1:p.Arg52= | |
| ENST00000619917.4:c.156G>T | ENSP00000479813.1:p.Arg52= | |
| NM_001316323.1:c.-48+1279G>T | NP_001303252.1:n.-48+1279G>T | |
| NM_001316324.1:c.-195-77G>T | NP_001303253.1:n.-195-77G>T | |
| NM_002695.3:c.156G>T | NP_002686.2:p.Arg52= | |
| XM_011528070.1:c.156G>T | XP_011526372.1:p.Arg52= | |
| XM_011528070.3:c.156G>T | XP_011526372.1:p.Arg52= | |
| XM_017026883.2:c.-48+1279G>T | XP_016882372.1:n.-48+1279G>T | |
| NM_002695.4:c.156G>T | NP_002686.2:p.Arg52= | |
| NM_001316323.2:c.-48+1279G>T | NP_001303252.1:n.-48+1279G>T | |
| NM_001316324.2:c.-195-77G>T | NP_001303253.1:n.-195-77G>T | |
| NM_002695.5:c.156G>T MANE Select | NP_002686.3:p.Arg52= |