Linked Data
dbSNP Id:
rs73208120
gnomAD v2:
12-117747590-T-G
gnomAD v3:
12-117309785-T-G
gnomAD v4:
12-117309785-T-G
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117309785T>G , CM000674.2:g.117309785T>G | GRCh38 |
| NC_000012.11:g.117747590T>G , CM000674.1:g.117747590T>G | GRCh37 |
| NC_000012.10:g.116231973T>G | NCBI36 |
| NG_011991.2:g.56993A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317775.11:c.852+1681A>C MANE Select | ENSP00000320758.6:n.852+1681A>C | |
| ENST00000317775.10:c.852+1681A>C | ENSP00000320758.6:n.852+1681A>C | |
| ENST00000338101.8:c.852+1681A>C | ENSP00000337459.4:n.852+1681A>C | |
| ENST00000344089.4:c.849+1681A>C | ENSP00000339862.4:n.849+1681A>C | |
| ENST00000618760.4:c.852+1681A>C | ENSP00000477999.1:n.852+1681A>C | |
| NM_000620.4:c.852+1681A>C | NP_000611.1:n.852+1681A>C | |
| NM_001204218.1:c.852+1681A>C | NP_001191147.1:n.852+1681A>C | |
| XM_011538398.1:c.852+1681A>C | XP_011536700.1:n.852+1681A>C | |
| NM_000620.5:c.852+1681A>C MANE Select | NP_000611.1:n.852+1681A>C | |
| NM_001204218.2:c.852+1681A>C | NP_001191147.1:n.852+1681A>C |