Linked Data
dbSNP Id:
rs2243803
gnomAD v2:
18-42956672-T-A
gnomAD v3:
18-45376707-T-A
gnomAD v4:
18-45376707-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45376707T>A , CM000680.2:g.45376707T>A | GRCh38 |
| NC_000018.9:g.42956672T>A , CM000680.1:g.42956672T>A | GRCh37 |
| NC_000018.8:g.41210670T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000586448.5:c.-124-106526T>A | ENSP00000465953.1:n.-124-106526T>A | |
| NM_001242692.1:c.-124-106526T>A | NP_001229621.1:n.-124-106526T>A | |
| XM_011526216.1:c.-250-106526T>A | XP_011524518.1:n.-250-106526T>A | |
| XM_017026016.2:c.-124-106526T>A | XP_016881505.1:n.-124-106526T>A | |
| XM_024451270.1:c.-124-106526T>A | XP_024307038.1:n.-124-106526T>A | |
| XM_024451271.1:c.-124-106526T>A | XP_024307039.1:n.-124-106526T>A | |
| NM_001242692.2:c.-124-106526T>A | NP_001229621.1:n.-124-106526T>A | |
| NM_001371319.1:c.-124-106526T>A | NP_001358248.1:n.-124-106526T>A |