Linked Data
dbSNP Id:
rs1893133372
gnomAD v4:
12-80460681-C-T
MyVariant Identifiers:
chr12:g.80460681C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80460681C>T , CM000674.2:g.80460681C>T | GRCh38 |
| NC_000012.11:g.80849496G>A , CM000674.1:g.80849496G>A | GRCh37 |
| NC_000012.10:g.79373627G>A | NCBI36 |
| NG_034052.1:g.21336C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644991.3:c.689C>T MANE Select | ENSP00000495607.1:p.Thr230Ile | |
| ENST00000614701.4:c.689C>T | ENSP00000482885.1:p.Thr230Ile | |
| ENST00000616559.4:c.815C>T | ENSP00000483259.1:p.Thr272Ile | |
| NM_001145026.1:c.689C>T | NP_001138498.1:p.Thr230Ile | |
| XM_011538290.1:c.689C>T | XP_011536592.1:p.Thr230Ile | |
| XM_017019273.1:c.1355C>T | XP_016874762.1:p.Thr452Ile | |
| XM_017019274.1:c.1355C>T | XP_016874763.1:p.Thr452Ile | |
| XM_017019275.1:c.1355C>T | XP_016874764.1:p.Thr452Ile | |
| XR_001748688.1:n.1492C>T | ||
| XR_001748689.1:n.1492C>T | ||
| NM_001145026.2:c.689C>T MANE Select | NP_001138498.1:p.Thr230Ile |