Linked Data
dbSNP Id:
rs934131084
gnomAD v2:
5-14716447-C-A
gnomAD v3:
5-14716338-C-A
gnomAD v4:
5-14716338-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716338C>A , CM000667.2:g.14716338C>A | GRCh38 |
| NC_000005.9:g.14716447C>A , CM000667.1:g.14716447C>A | GRCh37 |
| NC_000005.8:g.14769447C>A | NCBI36 |
| NG_008273.1:g.160441G>T | |
| NG_008273.2:g.160448G>T | |
| NG_051625.1:g.60545C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1141+368G>T (ANKH) MANE Select | ENSP00000284268.6:n.1141+368G>T | |
| ENST00000284268.6:c.1141+368G>T (ANKH) | ENSP00000284268.6:n.1141+368G>T | |
| ENST00000502585.1:n.383+368G>T (ANKH) | ||
| NM_054027.4:c.1141+368G>T (ANKH) | NP_473368.1:n.1141+368G>T | |
| NR_046285.1:n.2492-84C>A | ||
| NM_054027.5:c.1141+368G>T (ANKH) | NP_473368.1:n.1141+368G>T | |
| XM_011514151.2:c.*3663C>A (OTULIN) | XP_011512453.1:n.*3663C>A | |
| XM_017009644.2:c.1057+368G>T (ANKH) | XP_016865133.1:n.1057+368G>T | |
| NM_054027.6:c.1141+368G>T (ANKH) MANE Select | NP_473368.1:n.1141+368G>T |