Linked Data
dbSNP Id:
rs1011455898
gnomAD v2:
20-948715-G-A
gnomAD v3:
20-968072-G-A
gnomAD v4:
20-968072-G-A
COSMIC:
COSM4100755
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.968072G>A , CM000682.2:g.968072G>A | GRCh38 |
| NC_000020.10:g.948715G>A , CM000682.1:g.948715G>A | GRCh37 |
| NC_000020.9:g.896715G>A | NCBI36 |
| NG_013043.1:g.39193C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217260.9:c.146C>T MANE Select | ENSP00000217260.4:p.Thr49Ile | |
| ENST00000217260.8:c.146C>T | ENSP00000217260.4:p.Thr49Ile | |
| ENST00000400634.2:c.146C>T | ENSP00000383475.2:p.Thr49Ile | |
| NM_001029871.3:c.146C>T | NP_001025042.2:p.Thr49Ile | |
| NM_001040007.2:c.146C>T | NP_001035096.1:p.Thr49Ile | |
| XM_011529232.1:c.194C>T | XP_011527534.1:p.Thr65Ile | |
| XM_011529233.1:c.194C>T | XP_011527535.1:p.Thr65Ile | |
| XR_937068.1:n.266C>T | ||
| XR_937069.1:n.261C>T | ||
| XM_017027839.1:c.146C>T | XP_016883328.1:p.Thr49Ile | |
| NM_001029871.4:c.146C>T MANE Select | NP_001025042.2:p.Thr49Ile | |
| NM_001040007.3:c.146C>T | NP_001035096.1:p.Thr49Ile |