Linked Data
ClinVar Variation Id:
351410
dbSNP Id:
rs886060071
gnomAD v3:
5-14706493-A-C
gnomAD v4:
5-14706493-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14706493A>C , CM000667.2:g.14706493A>C | GRCh38 |
| NC_000005.9:g.14706602A>C , CM000667.1:g.14706602A>C | GRCh37 |
| NC_000005.8:g.14759602A>C | NCBI36 |
| NG_008273.1:g.170286T>G | |
| NG_008273.2:g.170293T>G | |
| NG_051625.1:g.50700A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.*4704T>G (ANKH) MANE Select | ENSP00000284268.6:n.*4704T>G | |
| ENST00000284268.6:c.*4704T>G (ANKH) | ENSP00000284268.6:n.*4704T>G | |
| NM_054027.4:c.*4704T>G (ANKH) | NP_473368.1:n.*4704T>G | |
| XM_011514151.1:c.*47-6229A>C (OTULIN) | XP_011512453.1:n.*47-6229A>C | |
| XM_011514152.1:c.*47-2445A>C (OTULIN) | XP_011512454.1:n.*47-2445A>C | |
| NM_054027.5:c.*4704T>G (ANKH) | NP_473368.1:n.*4704T>G | |
| XM_011514151.2:c.*47-6229A>C (OTULIN) | XP_011512453.1:n.*47-6229A>C | |
| XM_011514152.2:c.*47-2445A>C (OTULIN) | XP_011512454.1:n.*47-2445A>C | |
| NM_054027.6:c.*4704T>G (ANKH) MANE Select | NP_473368.1:n.*4704T>G |