Linked Data
dbSNP Id:
rs768091260
ExAC:
13:48923132 T / A
gnomAD v2:
13-48923132-T-A
gnomAD v4:
13-48348996-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48348996T>A , CM000675.2:g.48348996T>A | GRCh38 |
| NC_000013.10:g.48923132T>A , CM000675.1:g.48923132T>A | GRCh37 |
| NC_000013.9:g.47821133T>A | NCBI36 |
| NG_009009.1:g.50250T>A , LRG_517:g.50250T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.580T>A MANE Select | ENSP00000267163.4:p.Ser194Thr | |
| ENST00000650461.1:c.580T>A | ENSP00000497193.1:p.Ser194Thr | |
| ENST00000267163.4:c.580T>A | ENSP00000267163.4:p.Ser194Thr | |
| ENST00000467505.5:c.138-11021T>A | ENSP00000434702.1:n.138-11021T>A | |
| ENST00000525036.1:n.742T>A | ||
| NM_000321.2:c.580T>A , LRG_517t1:c.580T>A | NP_000312.2:p.Ser194Thr | |
| XM_011535171.1:c.319T>A | XP_011533473.1:p.Ser107Thr | |
| XM_011535171.2:c.319T>A | XP_011533473.1:p.Ser107Thr | |
| NM_000321.3:c.580T>A MANE Select | NP_000312.2:p.Ser194Thr |