Linked Data
dbSNP Id:
rs528751042
gnomAD v2:
5-139862426-A-G
gnomAD v3:
5-140482841-A-G
gnomAD v4:
5-140482841-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140482841A>G , CM000667.2:g.140482841A>G | GRCh38 |
| NC_000005.9:g.139862426A>G , CM000667.1:g.139862426A>G | GRCh37 |
| NC_000005.8:g.139842610A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360839.7:c.1870+174A>G (ANKHD1) MANE Select | ENSP00000354085.2:n.1870+174A>G | |
| ENST00000246149.10:c.354+174A>G (ANKHD1) | ||
| ENST00000297183.10:c.-2982+174A>G (ANKHD1) | ENSP00000297183.7:n.-2982+174A>G | |
| ENST00000360839.6:c.1870+174A>G (ANKHD1) | ENSP00000354085.2:n.1870+174A>G | |
| ENST00000412116.5:c.88+174A>G (ANKHD1) | ENSP00000405602.1:n.88+174A>G | |
| ENST00000421134.5:c.1927+174A>G (ANKHD1) | ENSP00000394489.1:n.1927+174A>G | |
| ENST00000532219.5:c.1870+174A>G (ANKHD1-EIF4EBP3) | ENSP00000432016.1:n.1870+174A>G | |
| NM_017747.2:c.1870+174A>G (ANKHD1) | NP_060217.1:n.1870+174A>G | |
| NM_020690.5:c.1870+174A>G (ANKHD1-EIF4EBP3) | NP_065741.3:n.1870+174A>G | |
| NM_017747.3:c.1870+174A>G (ANKHD1) MANE Select | NP_060217.1:n.1870+174A>G | |
| NM_020690.6:c.1870+174A>G (ANKHD1-EIF4EBP3) | NP_065741.3:n.1870+174A>G |