Linked Data
ClinVar Variation Id:
5192
dbSNP Id:
rs28939080
gnomAD v4:
5-14713644-C-T
COSMIC:
COSM3210783
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14713644C>T , CM000667.2:g.14713644C>T | GRCh38 |
| NC_000005.9:g.14713753C>T , CM000667.1:g.14713753C>T | GRCh37 |
| NC_000005.8:g.14766753C>T | NCBI36 |
| NG_008273.1:g.163135G>A | |
| NG_008273.2:g.163142G>A | |
| NG_051625.1:g.57851C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284268.8:c.1165G>A (ANKH) MANE Select | ENSP00000284268.6:p.Gly389Arg | |
| ENST00000284268.6:c.1165G>A (ANKH) | ENSP00000284268.6:p.Gly389Arg | |
| ENST00000502585.1:n.407G>A (ANKH) | ||
| NM_054027.4:c.1165G>A (ANKH) | NP_473368.1:p.Gly389Arg | |
| NR_046285.1:n.951C>T | ||
| NM_054027.5:c.1165G>A (ANKH) | NP_473368.1:p.Gly389Arg | |
| XM_011514151.2:c.*969C>T (OTULIN) | XP_011512453.1:n.*969C>T | |
| XM_017009644.2:c.1081G>A (ANKH) | XP_016865133.1:p.Gly361Arg | |
| NM_054027.6:c.1165G>A (ANKH) MANE Select | NP_473368.1:p.Gly389Arg |