Linked Data
dbSNP Id:
rs1363864739
gnomAD v2:
12-117777440-A-G
gnomAD v3:
12-117339635-A-G
gnomAD v4:
12-117339635-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117339635A>G , CM000674.2:g.117339635A>G | GRCh38 |
| NC_000012.11:g.117777440A>G , CM000674.1:g.117777440A>G | GRCh37 |
| NC_000012.10:g.116261823A>G | NCBI36 |
| NG_011991.2:g.27143T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317775.11:c.-420-8146T>C MANE Select | ENSP00000320758.6:n.-420-8146T>C | |
| ENST00000317775.10:c.-420-8146T>C | ENSP00000320758.6:n.-420-8146T>C | |
| ENST00000549189.1:n.471-8146T>C | ||
| ENST00000618760.4:c.-420-8146T>C | ENSP00000477999.1:n.-420-8146T>C | |
| NM_000620.4:c.-420-8146T>C | NP_000611.1:n.-420-8146T>C | |
| NM_001204218.1:c.-420-8146T>C | NP_001191147.1:n.-420-8146T>C | |
| XM_011538398.1:c.-420-8146T>C | XP_011536700.1:n.-420-8146T>C | |
| NM_000620.5:c.-420-8146T>C MANE Select | NP_000611.1:n.-420-8146T>C | |
| NM_001204218.2:c.-420-8146T>C | NP_001191147.1:n.-420-8146T>C |