Linked Data
dbSNP Id:
rs4732812
gnomAD v2:
8-27923388-C-T
gnomAD v3:
8-28065871-C-T
gnomAD v4:
8-28065871-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.28065871C>T , CM000670.2:g.28065871C>T | GRCh38 |
| NC_000008.10:g.27923388C>T , CM000670.1:g.27923388C>T | GRCh37 |
| NC_000008.9:g.27979307C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413272.7:c.712-1140G>A MANE Select | ENSP00000408697.2:n.712-1140G>A | |
| ENST00000413272.6:c.712-1140G>A | ENSP00000408697.2:n.712-1140G>A | |
| NM_001010906.1:c.712-1140G>A | NP_001010906.1:n.712-1140G>A | |
| XM_011544523.1:c.784-1140G>A | XP_011542825.1:n.784-1140G>A | |
| XM_011544524.1:c.784-1140G>A | XP_011542826.1:n.784-1140G>A | |
| XM_011544526.1:c.784-1140G>A | XP_011542828.1:n.784-1140G>A | |
| XM_011544523.2:c.784-1140G>A | XP_011542825.1:n.784-1140G>A | |
| XM_011544524.3:c.784-1140G>A | XP_011542826.1:n.784-1140G>A | |
| XM_011544526.2:c.784-1140G>A | XP_011542828.1:n.784-1140G>A | |
| XM_017013403.1:c.784-1140G>A | XP_016868892.1:n.784-1140G>A | |
| NM_001010906.2:c.712-1140G>A MANE Select | NP_001010906.1:n.712-1140G>A |