Linked Data
dbSNP Id:
rs368072868
ExAC:
12:88926186 T / A
gnomAD v2:
12-88926186-T-A
gnomAD v4:
12-88532409-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88532409T>A , CM000674.2:g.88532409T>A | GRCh38 |
| NC_000012.11:g.88926186T>A , CM000674.1:g.88926186T>A | GRCh37 |
| NC_000012.10:g.87450317T>A | NCBI36 |
| NG_012098.1:g.53053A>T | |
| NG_012098.2:g.53053A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347404.10:c.192+32A>T | ENSP00000054216.5:n.192+32A>T | |
| ENST00000644744.1:c.192+32A>T MANE Select | ENSP00000495951.1:n.192+32A>T | |
| ENST00000646633.1:c.*193+32A>T | ENSP00000494139.1:n.*193+32A>T | |
| ENST00000228280.9:c.192+32A>T | ENSP00000228280.5:n.192+32A>T | |
| ENST00000347404.9:c.192+32A>T | ENSP00000054216.5:n.192+32A>T | |
| ENST00000357116.4:c.-47-25272A>T | ENSP00000474021.1:n.-47-25272A>T | |
| ENST00000378535.4:n.135+32A>T | ||
| ENST00000552044.1:c.39+32A>T | ENSP00000475042.1:n.39+32A>T | |
| NM_000899.4:c.192+32A>T | NP_000890.1:n.192+32A>T | |
| NM_003994.5:c.192+32A>T | NP_003985.2:n.192+32A>T | |
| NM_000899.5:c.192+32A>T MANE Select | NP_000890.1:n.192+32A>T | |
| NM_003994.6:c.192+32A>T | NP_003985.2:n.192+32A>T |