Linked Data
dbSNP Id:
rs2072671
ExAC:
1:20915701 A / C
gnomAD v2:
1-20915701-A-C
gnomAD v3:
1-20589208-A-C
gnomAD v4:
1-20589208-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20589208A>C , CM000663.2:g.20589208A>C | GRCh38 |
| NC_000001.10:g.20915701A>C , CM000663.1:g.20915701A>C | GRCh37 |
| NC_000001.9:g.20788288A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375071.4:c.79A>C MANE Select | ENSP00000364212.3:p.Lys27Gln | |
| ENST00000375071.3:c.79A>C | ENSP00000364212.3:p.Lys27Gln | |
| ENST00000461985.1:n.123A>C | ||
| NM_001785.2:c.79A>C | NP_001776.1:p.Lys27Gln | |
| NM_001785.3:c.79A>C MANE Select | NP_001776.1:p.Lys27Gln |