Linked Data
dbSNP Id:
rs111369645
ExAC:
5:14711295 C / G
gnomAD v2:
5-14711295-C-G
gnomAD v3:
5-14711186-C-G
gnomAD v4:
5-14711186-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14711186C>G , CM000667.2:g.14711186C>G | GRCh38 |
| NC_000005.9:g.14711295C>G , CM000667.1:g.14711295C>G | GRCh37 |
| NC_000005.8:g.14764295C>G | NCBI36 |
| NG_008273.1:g.165593G>C | |
| NG_008273.2:g.165600G>C | |
| NG_051625.1:g.55393C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.*11G>C (ANKH) MANE Select | ENSP00000284268.6:n.*11G>C | |
| ENST00000284268.6:c.*11G>C (ANKH) | ENSP00000284268.6:n.*11G>C | |
| ENST00000502585.1:n.732G>C (ANKH) | ||
| NM_054027.4:c.*11G>C (ANKH) | NP_473368.1:n.*11G>C | |
| XM_011514151.1:c.*47-1536C>G (OTULIN) | XP_011512453.1:n.*47-1536C>G | |
| NM_054027.5:c.*11G>C (ANKH) | NP_473368.1:n.*11G>C | |
| XM_011514151.2:c.*47-1536C>G (OTULIN) | XP_011512453.1:n.*47-1536C>G | |
| XM_017009644.2:c.*11G>C (ANKH) | XP_016865133.1:n.*11G>C | |
| NM_054027.6:c.*11G>C (ANKH) MANE Select | NP_473368.1:n.*11G>C |