Linked Data
dbSNP Id:
rs28383653
ExAC:
4:187455399 C / T
gnomAD v2:
4-187455399-C-T
gnomAD v3:
4-186534245-C-T
gnomAD v4:
4-186534245-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186534245C>T , CM000666.2:g.186534245C>T | GRCh38 |
| NC_000004.11:g.187455399C>T , CM000666.1:g.187455399C>T | GRCh37 |
| NC_000004.10:g.187692393C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703170.1:c.497G>A | ENSP00000515216.1:p.Gly166Glu | |
| ENST00000307161.5:c.497G>A MANE Select | ENSP00000302811.5:p.Gly166Glu | |
| ENST00000509111.2:c.147+20937G>A | ||
| NM_005958.3:c.497G>A | NP_005949.1:p.Gly166Glu | |
| XM_011532002.1:c.242G>A | XP_011530304.1:p.Gly81Glu | |
| XR_939589.1:n.1982-11399C>T | ||
| XR_939590.1:n.162-11399C>T | ||
| NM_005958.4:c.497G>A MANE Select | NP_005949.1:p.Gly166Glu | |
| XM_011532002.3:c.242G>A | XP_011530304.1:p.Gly81Glu | |
| XR_939589.2:n.1982-11399C>T | ||
| XR_939590.2:n.162-11399C>T |