Linked Data
dbSNP Id:
rs1425486
gnomAD v2:
4-157683685-C-T
gnomAD v3:
4-156762533-C-T
gnomAD v4:
4-156762533-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.156762533C>T , CM000666.2:g.156762533C>T | GRCh38 |
| NC_000004.11:g.157683685C>T , CM000666.1:g.157683685C>T | GRCh37 |
| NC_000004.10:g.157903135C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502773.6:c.*557G>A MANE Select | ENSP00000422464.1:n.*557G>A | |
| ENST00000274071.6:c.*1503G>A | ENSP00000274071.2:n.*1503G>A | |
| ENST00000502773.5:c.*557G>A | ENSP00000422464.1:n.*557G>A | |
| NM_016205.2:c.*557G>A | NP_057289.1:n.*557G>A | |
| NR_036641.1:n.2147G>A | ||
| XM_011532124.1:c.*557G>A | XP_011530426.1:n.*557G>A | |
| XM_011532125.1:c.*557G>A | XP_011530427.1:n.*557G>A | |
| XM_011532124.2:c.*557G>A | XP_011530426.1:n.*557G>A | |
| XM_017008455.1:c.*557G>A | XP_016863944.1:n.*557G>A | |
| XM_017008456.2:c.*557G>A | XP_016863945.1:n.*557G>A | |
| NM_016205.3:c.*557G>A MANE Select | NP_057289.1:n.*557G>A | |
| NR_036641.2:n.2552G>A |