Linked Data
gnomAD v4:
1-20618466-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20618466G>C , CM000663.2:g.20618466G>C | GRCh38 |
| NC_000001.10:g.20944959G>C , CM000663.1:g.20944959G>C | GRCh37 |
| NC_000001.9:g.20817546G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375071.4:c.339G>C MANE Select | ENSP00000364212.3:p.Trp113Cys | |
| ENST00000375071.3:c.339G>C | ENSP00000364212.3:p.Trp113Cys | |
| ENST00000461985.1:n.325G>C | ||
| NM_001785.2:c.339G>C | NP_001776.1:p.Trp113Cys | |
| NM_001785.3:c.339G>C MANE Select | NP_001776.1:p.Trp113Cys |