Linked Data
dbSNP Id:
rs12931939
gnomAD v2:
16-20060830-C-T
gnomAD v3:
16-20049508-C-T
gnomAD v4:
16-20049508-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20049508C>T , CM000678.2:g.20049508C>T | GRCh38 |
| NC_000016.9:g.20060830C>T , CM000678.1:g.20060830C>T | GRCh37 |
| NC_000016.8:g.19968331C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570682.2:c.128-16839G>A MANE Select | ENSP00000458791.2:n.128-16839G>A | |
| ENST00000326571.7:c.*74-16839G>A | ENSP00000370779.5:n.*74-16839G>A | |
| ENST00000570682.1:c.128-16839G>A | ENSP00000458791.1:n.128-16839G>A | |
| NM_001002911.2:c.128-16839G>A | NP_001002911.1:n.128-16839G>A | |
| XM_005255114.2:c.-152-16839G>A | XP_005255171.1:n.-152-16839G>A | |
| NM_001002911.3:c.128-16839G>A | NP_001002911.1:n.128-16839G>A | |
| NM_001318483.1:c.-152-16839G>A | NP_001305412.1:n.-152-16839G>A | |
| NM_001002911.4:c.128-16839G>A MANE Select | NP_001002911.1:n.128-16839G>A |