Linked Data
dbSNP Id:
rs1584468
gnomAD v2:
5-119937691-G-A
gnomAD v3:
5-120601996-G-A
gnomAD v4:
5-120601996-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.120601996G>A , CM000667.2:g.120601996G>A | GRCh38 |
| NC_000005.9:g.119937691G>A , CM000667.1:g.119937691G>A | GRCh37 |
| NC_000005.8:g.119965590G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407149.7:c.160-83958G>A MANE Select | ENSP00000385118.2:n.160-83958G>A | |
| ENST00000379551.2:c.91-83958G>A | ENSP00000368869.2:n.91-83958G>A | |
| ENST00000407149.6:c.160-83958G>A | ENSP00000385118.2:n.160-83958G>A | |
| ENST00000505123.5:c.-273-15099G>A | ENSP00000423446.1:n.-273-15099G>A | |
| ENST00000509923.1:c.-51-83958G>A | ENSP00000421256.1:n.-51-83958G>A | |
| NM_001300783.1:c.160-83958G>A | NP_001287712.1:n.160-83958G>A | |
| NM_001308087.1:c.-51-83958G>A | NP_001295016.1:n.-51-83958G>A | |
| NM_001308088.1:c.-273-15099G>A | NP_001295017.1:n.-273-15099G>A | |
| NM_016644.2:c.91-83958G>A | NP_057728.1:n.91-83958G>A | |
| XM_005272012.2:c.-273-15099G>A | XP_005272069.1:n.-273-15099G>A | |
| XM_011543452.1:c.-86-15099G>A | XP_011541754.1:n.-86-15099G>A | |
| XM_011543453.1:c.-86-15099G>A | XP_011541755.1:n.-86-15099G>A | |
| XM_011543454.1:c.-273-15099G>A | XP_011541756.1:n.-273-15099G>A | |
| XM_011543456.1:c.-610-15099G>A | XP_011541758.1:n.-610-15099G>A | |
| XM_011543452.2:c.-86-15099G>A | XP_011541754.1:n.-86-15099G>A | |
| XM_011543453.3:c.-86-15099G>A | XP_011541755.1:n.-86-15099G>A | |
| XM_011543454.2:c.-273-15099G>A | XP_011541756.1:n.-273-15099G>A | |
| XR_001742093.1:n.425-83958G>A | ||
| XR_001742094.1:n.82-83958G>A | ||
| NM_001300783.2:c.160-83958G>A MANE Select | NP_001287712.1:n.160-83958G>A |