Linked Data
dbSNP Id:
rs756392600
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542023C>A , CM000671.2:g.98542023C>A | GRCh38 |
| NC_000009.11:g.101304305C>A , CM000671.1:g.101304305C>A | GRCh37 |
| NC_000009.10:g.100344126C>A | NCBI36 |
| NG_016426.1:g.172175G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.480G>T MANE Select | ENSP00000259455.2:p.Thr160= | |
| ENST00000637410.1:n.258G>T | ||
| ENST00000637717.1:c.96G>T | ENSP00000490789.1:p.Thr32= | |
| ENST00000638001.1:n.90G>T | ||
| ENST00000259455.3:c.480G>T | ENSP00000259455.2:p.Thr160= | |
| ENST00000477471.1:n.267G>T | ||
| ENST00000634227.1:n.254G>T | ||
| NM_005458.7:c.480G>T | NP_005449.5:p.Thr160= | |
| XM_017015331.2:c.186G>T | XP_016870820.1:p.Thr62= | |
| NM_005458.8:c.480G>T MANE Select | NP_005449.5:p.Thr160= |