Linked Data
dbSNP Id:
rs1127678
gnomAD v2:
17-80059487-C-T
gnomAD v3:
17-82101611-C-T
gnomAD v4:
17-82101611-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82101611C>T , CM000679.2:g.82101611C>T | GRCh38 |
| NC_000017.10:g.80059487C>T , CM000679.1:g.80059487C>T | GRCh37 |
| NC_000017.9:g.77652776C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000694881.1:c.*71G>A MANE Select | ENSP00000511565.1:n.*71G>A | |
| ENST00000694882.1:c.*3058G>A | ENSP00000511566.1:n.*3058G>A | |
| ENST00000389641.9:c.*71G>A | ENSP00000374292.5:n.*71G>A | |
| ENST00000665763.1:c.*71G>A | ENSP00000499556.1:n.*71G>A | |
| ENST00000389641.8:c.*71G>A | ENSP00000374292.4:n.*71G>A | |
| ENST00000392347.5:c.*71G>A | ENSP00000376158.1:n.*71G>A | |
| ENST00000583053.1:c.100-53G>A | ||
| ENST00000584717.1:n.362G>A | ||
| NM_198082.2:c.*71G>A | NP_932348.2:n.*71G>A | |
| NM_198082.3:c.*71G>A | NP_932348.2:n.*71G>A | |
| XM_017024463.2:c.*184G>A | XP_016879952.1:n.*184G>A | |
| XM_017024466.2:c.*71G>A | XP_016879955.1:n.*71G>A | |
| XM_017024479.1:c.*71G>A | XP_016879968.1:n.*71G>A | |
| XM_017024483.1:c.*71G>A | XP_016879972.1:n.*71G>A | |
| XR_001752484.1:n.3202G>A | ||
| XR_001752486.2:n.3170G>A | ||
| XR_001752487.1:n.9390G>A | ||
| XR_001752488.1:n.9559G>A | ||
| XR_001752491.1:n.9605G>A | ||
| NM_001367828.1:c.*71G>A | NP_001354757.1:n.*71G>A | |
| NM_001367828.2:c.*71G>A | NP_001354757.1:n.*71G>A | |
| NM_198082.4:c.*71G>A | NP_932348.2:n.*71G>A | |
| NM_001394669.1:c.*71G>A MANE Select | NP_001381598.1:n.*71G>A | |
| NM_001394670.1:c.*71G>A | NP_001381599.1:n.*71G>A |