Linked Data
ClinVar Variation Id:
351415
dbSNP Id:
rs77573132
gnomAD v2:
5-14707055-A-G
gnomAD v3:
5-14706946-A-G
gnomAD v4:
5-14706946-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14706946A>G , CM000667.2:g.14706946A>G | GRCh38 |
| NC_000005.9:g.14707055A>G , CM000667.1:g.14707055A>G | GRCh37 |
| NC_000005.8:g.14760055A>G | NCBI36 |
| NG_008273.1:g.169833T>C | |
| NG_008273.2:g.169840T>C | |
| NG_051625.1:g.51153A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284268.8:c.*4251T>C (ANKH) MANE Select | ENSP00000284268.6:n.*4251T>C | |
| ENST00000284268.6:c.*4251T>C (ANKH) | ENSP00000284268.6:n.*4251T>C | |
| NM_054027.4:c.*4251T>C (ANKH) | NP_473368.1:n.*4251T>C | |
| XM_011514151.1:c.*47-5776A>G (OTULIN) | XP_011512453.1:n.*47-5776A>G | |
| XM_011514152.1:c.*47-1992A>G (OTULIN) | XP_011512454.1:n.*47-1992A>G | |
| NM_054027.5:c.*4251T>C (ANKH) | NP_473368.1:n.*4251T>C | |
| XM_011514151.2:c.*47-5776A>G (OTULIN) | XP_011512453.1:n.*47-5776A>G | |
| XM_011514152.2:c.*47-1992A>G (OTULIN) | XP_011512454.1:n.*47-1992A>G | |
| NM_054027.6:c.*4251T>C (ANKH) MANE Select | NP_473368.1:n.*4251T>C |