Linked Data
dbSNP Id:
rs1317259848
gnomAD v2:
5-14716437-A-C
gnomAD v3:
5-14716328-A-C
gnomAD v4:
5-14716328-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716328A>C , CM000667.2:g.14716328A>C | GRCh38 |
| NC_000005.9:g.14716437A>C , CM000667.1:g.14716437A>C | GRCh37 |
| NC_000005.8:g.14769437A>C | NCBI36 |
| NG_008273.1:g.160451T>G | |
| NG_008273.2:g.160458T>G | |
| NG_051625.1:g.60535A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1141+378T>G (ANKH) MANE Select | ENSP00000284268.6:n.1141+378T>G | |
| ENST00000284268.6:c.1141+378T>G (ANKH) | ENSP00000284268.6:n.1141+378T>G | |
| ENST00000502585.1:n.383+378T>G (ANKH) | ||
| NM_054027.4:c.1141+378T>G (ANKH) | NP_473368.1:n.1141+378T>G | |
| NR_046285.1:n.2492-94A>C | ||
| NM_054027.5:c.1141+378T>G (ANKH) | NP_473368.1:n.1141+378T>G | |
| XM_011514151.2:c.*3653A>C (OTULIN) | XP_011512453.1:n.*3653A>C | |
| XM_017009644.2:c.1057+378T>G (ANKH) | XP_016865133.1:n.1057+378T>G | |
| NM_054027.6:c.1141+378T>G (ANKH) MANE Select | NP_473368.1:n.1141+378T>G |