Linked Data
gnomAD v4:
10-133373287-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373287C>T , CM000672.2:g.133373287C>T | GRCh38 |
| NC_000010.10:g.135186791C>T , CM000672.1:g.135186791C>T | GRCh37 |
| NC_000010.9:g.135036781C>T | NCBI36 |
| NG_042077.1:g.5118G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.47G>A MANE Select | ENSP00000357535.3:p.Arg16Lys | |
| ENST00000368547.3:c.47G>A | ENSP00000357535.3:p.Arg16Lys | |
| NM_004092.3:c.47G>A | NP_004083.3:p.Arg16Lys | |
| XR_002956965.1:n.110G>A | ||
| NM_004092.4:c.47G>A MANE Select | NP_004083.3:p.Arg16Lys |