Linked Data
dbSNP Id:
rs760632327
ExAC:
11:116619180 C / G
gnomAD v2:
11-116619180-C-G
gnomAD v3:
11-116748464-C-G
gnomAD v4:
11-116748464-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116748464C>G , CM000673.2:g.116748464C>G | GRCh38 |
| NC_000011.9:g.116619180C>G , CM000673.1:g.116619180C>G | GRCh37 |
| NC_000011.8:g.116124390C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260210.5:c.*18G>C MANE Select | ENSP00000260210.3:n.*18G>C | |
| ENST00000260210.4:c.*18G>C | ENSP00000260210.3:n.*18G>C | |
| ENST00000375445.7:c.*18G>C | ENSP00000364594.3:n.*18G>C | |
| ENST00000419189.1:c.653G>C | ||
| NM_001159736.1:c.*18G>C | NP_001153208.1:n.*18G>C | |
| NM_032725.3:c.*18G>C | NP_116114.1:n.*18G>C | |
| XM_011543035.1:c.*18G>C | XP_011541337.1:n.*18G>C | |
| XM_011543035.2:c.*18G>C | XP_011541337.1:n.*18G>C | |
| NM_032725.4:c.*18G>C MANE Select | NP_116114.1:n.*18G>C | |
| NM_001159736.2:c.*18G>C | NP_001153208.1:n.*18G>C |