Linked Data
dbSNP Id:
rs1442849
gnomAD v2:
17-8024121-C-T
gnomAD v3:
17-8120803-C-T
gnomAD v4:
17-8120803-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8120803C>T , CM000679.2:g.8120803C>T | GRCh38 |
| NC_000017.10:g.8024121C>T , CM000679.1:g.8024121C>T | GRCh37 |
| NC_000017.9:g.7964846C>T | NCBI36 |
| NG_015807.1:g.3114G>A | |
| NG_015816.1:g.8290G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000541682.7:c.*768G>A MANE Select | ENSP00000446205.2:n.*768G>A | |
| ENST00000541682.6:c.1461G>A | ENSP00000446205.2:n.1461G>A | |
| NM_001165967.1:c.*768G>A | NP_001159439.1:n.*768G>A | |
| NM_032580.3:c.*768G>A | NP_115969.2:n.*768G>A | |
| XM_011524038.1:c.*768G>A | XP_011522340.1:n.*768G>A | |
| XR_934203.1:n.69+989C>T | ||
| XM_017025232.1:c.*768G>A | XP_016880721.1:n.*768G>A | |
| XM_024451007.1:c.*768G>A | XP_024306775.1:n.*768G>A | |
| NM_001165967.2:c.*768G>A MANE Select | NP_001159439.1:n.*768G>A | |
| NM_032580.4:c.*768G>A | NP_115969.2:n.*768G>A |