Linked Data
dbSNP Id:
rs30735
gnomAD v2:
5-130709422-G-A
gnomAD v3:
5-131373729-G-A
gnomAD v4:
5-131373729-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131373729G>A , CM000667.2:g.131373729G>A | GRCh38 |
| NC_000005.9:g.130709422G>A , CM000667.1:g.130709422G>A | GRCh37 |
| NC_000005.8:g.130737321G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000505065.2:c.55-11814G>A MANE Select | ENSP00000427421.1:n.55-11814G>A | |
| ENST00000360515.7:c.55-11814G>A | ENSP00000353706.3:n.55-11814G>A | |
| ENST00000395246.5:c.55-11814G>A | ENSP00000378667.1:n.55-11814G>A | |
| ENST00000503291.5:c.-27-11814G>A | ENSP00000426779.1:n.-27-11814G>A | |
| ENST00000505065.1:c.55-11814G>A | ENSP00000427421.1:n.55-11814G>A | |
| NM_001038702.1:c.55-11814G>A | NP_001033791.1:n.55-11814G>A | |
| NM_020240.2:c.55-11814G>A | NP_064625.1:n.55-11814G>A | |
| XM_017009648.2:c.55-11814G>A | XP_016865137.1:n.55-11814G>A | |
| XM_017009649.2:c.55-11814G>A | XP_016865138.1:n.55-11814G>A | |
| NM_001038702.2:c.55-11814G>A | NP_001033791.1:n.55-11814G>A | |
| NM_001375633.1:c.55-11814G>A | NP_001362562.1:n.55-11814G>A | |
| NM_001375634.1:c.55-11814G>A | NP_001362563.1:n.55-11814G>A | |
| NM_001375635.1:c.55-11814G>A MANE Select | NP_001362564.1:n.55-11814G>A | |
| NM_020240.3:c.55-11814G>A | NP_064625.1:n.55-11814G>A |