Linked Data
dbSNP Id:
rs922223596
gnomAD v2:
17-8024869-C-A
gnomAD v3:
17-8121551-C-A
gnomAD v4:
17-8121551-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121551C>A , CM000679.2:g.8121551C>A | GRCh38 |
| NC_000017.10:g.8024869C>A , CM000679.1:g.8024869C>A | GRCh37 |
| NC_000017.9:g.7965594C>A | NCBI36 |
| NG_015807.1:g.2366G>T | |
| NG_015816.1:g.7542G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.*20G>T MANE Select | ENSP00000446205.2:n.*20G>T | |
| ENST00000541682.6:c.713G>T | ENSP00000446205.2:n.713G>T | |
| NM_001165967.1:c.*20G>T | NP_001159439.1:n.*20G>T | |
| NM_032580.3:c.*20G>T | NP_115969.2:n.*20G>T | |
| XM_011524038.1:c.*20G>T | XP_011522340.1:n.*20G>T | |
| XM_011524039.1:c.*20G>T | XP_011522341.1:n.*20G>T | |
| XM_011524040.1:c.*20G>T | XP_011522342.1:n.*20G>T | |
| XM_011524041.1:c.*20G>T | XP_011522343.1:n.*20G>T | |
| XM_011524042.1:c.*20G>T | XP_011522344.1:n.*20G>T | |
| XR_934203.1:n.69+1737C>A | ||
| XM_017025232.1:c.*20G>T | XP_016880721.1:n.*20G>T | |
| XM_024451007.1:c.*20G>T | XP_024306775.1:n.*20G>T | |
| NM_001165967.2:c.*20G>T MANE Select | NP_001159439.1:n.*20G>T | |
| NM_032580.4:c.*20G>T | NP_115969.2:n.*20G>T |