Linked Data
dbSNP Id:
rs542525743
gnomAD v2:
3-38505838-C-A
gnomAD v3:
3-38464347-C-A
gnomAD v4:
3-38464347-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38464347C>A , CM000665.2:g.38464347C>A | GRCh38 |
| NC_000003.11:g.38505838C>A , CM000665.1:g.38505838C>A | GRCh37 |
| NC_000003.10:g.38480842C>A | NCBI36 |
| NG_011791.1:g.15049C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352511.5:c.52+9973C>A MANE Select | ENSP00000340361.3:n.52+9973C>A | |
| ENST00000352511.4:c.52+9973C>A | ENSP00000340361.3:n.52+9973C>A | |
| ENST00000465020.5:n.56+9973C>A | ||
| NM_001106.3:c.52+9973C>A | NP_001097.2:n.52+9973C>A | |
| XM_005265583.2:c.115+4658C>A | XP_005265640.1:n.115+4658C>A | |
| XM_005265583.3:c.115+4658C>A | XP_005265640.1:n.115+4658C>A | |
| XM_017007514.1:c.94+4679C>A | XP_016863003.1:n.94+4679C>A | |
| XM_017007515.2:c.70+9663C>A | XP_016863004.1:n.70+9663C>A | |
| NM_001106.4:c.52+9973C>A MANE Select | NP_001097.2:n.52+9973C>A |