Linked Data
dbSNP Id:
rs545222770
gnomAD v2:
5-14716484-C-T
gnomAD v3:
5-14716375-C-T
gnomAD v4:
5-14716375-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716375C>T , CM000667.2:g.14716375C>T | GRCh38 |
| NC_000005.9:g.14716484C>T , CM000667.1:g.14716484C>T | GRCh37 |
| NC_000005.8:g.14769484C>T | NCBI36 |
| NG_008273.1:g.160404G>A | |
| NG_008273.2:g.160411G>A | |
| NG_051625.1:g.60582C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1141+331G>A (ANKH) MANE Select | ENSP00000284268.6:n.1141+331G>A | |
| ENST00000284268.6:c.1141+331G>A (ANKH) | ENSP00000284268.6:n.1141+331G>A | |
| ENST00000502585.1:n.383+331G>A (ANKH) | ||
| NM_054027.4:c.1141+331G>A (ANKH) | NP_473368.1:n.1141+331G>A | |
| NR_046285.1:n.2492-47C>T | ||
| NM_054027.5:c.1141+331G>A (ANKH) | NP_473368.1:n.1141+331G>A | |
| XM_011514151.2:c.*3700C>T (OTULIN) | XP_011512453.1:n.*3700C>T | |
| XM_017009644.2:c.1057+331G>A (ANKH) | XP_016865133.1:n.1057+331G>A | |
| NM_054027.6:c.1141+331G>A (ANKH) MANE Select | NP_473368.1:n.1141+331G>A |