Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542006T>G , CM000671.2:g.98542006T>G | GRCh38 |
| NC_000009.11:g.101304288T>G , CM000671.1:g.101304288T>G | GRCh37 |
| NC_000009.10:g.100344109T>G | NCBI36 |
| NG_016426.1:g.172192A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.497A>C MANE Select | ENSP00000259455.2:p.Lys166Thr | |
| ENST00000637410.1:n.275A>C | ||
| ENST00000637717.1:c.113A>C | ENSP00000490789.1:p.Lys38Thr | |
| ENST00000259455.3:c.497A>C | ENSP00000259455.2:p.Lys166Thr | |
| ENST00000477471.1:n.284A>C | ||
| ENST00000634227.1:n.271A>C | ||
| NM_005458.7:c.497A>C | NP_005449.5:p.Lys166Thr | |
| XM_017015331.2:c.203A>C | XP_016870820.1:p.Lys68Thr | |
| NM_005458.8:c.497A>C MANE Select | NP_005449.5:p.Lys166Thr |