Linked Data
ClinVar Variation Id:
351496
ClinVar RCV Id:
RCV001707673
dbSNP Id:
rs3045
ExAC:
5:14711275 T / C
gnomAD v2:
5-14711275-T-C
gnomAD v3:
5-14711166-T-C
gnomAD v4:
5-14711166-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14711166T>C , CM000667.2:g.14711166T>C | GRCh38 |
| NC_000005.9:g.14711275T>C , CM000667.1:g.14711275T>C | GRCh37 |
| NC_000005.8:g.14764275T>C | NCBI36 |
| NG_008273.1:g.165613A>G | |
| NG_008273.2:g.165620A>G | |
| NG_051625.1:g.55373T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284268.8:c.*31A>G (ANKH) MANE Select | ENSP00000284268.6:n.*31A>G | |
| ENST00000284268.6:c.*31A>G (ANKH) | ENSP00000284268.6:n.*31A>G | |
| ENST00000502585.1:n.752A>G (ANKH) | ||
| NM_054027.4:c.*31A>G (ANKH) | NP_473368.1:n.*31A>G | |
| XM_011514151.1:c.*47-1556T>C (OTULIN) | XP_011512453.1:n.*47-1556T>C | |
| NM_054027.5:c.*31A>G (ANKH) | NP_473368.1:n.*31A>G | |
| XM_011514151.2:c.*47-1556T>C (OTULIN) | XP_011512453.1:n.*47-1556T>C | |
| XM_017009644.2:c.*31A>G (ANKH) | XP_016865133.1:n.*31A>G | |
| NM_054027.6:c.*31A>G (ANKH) MANE Select | NP_473368.1:n.*31A>G |