Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541937A>G , CM000671.2:g.98541937A>G | GRCh38 |
| NC_000009.11:g.101304219A>G , CM000671.1:g.101304219A>G | GRCh37 |
| NC_000009.10:g.100344040A>G | NCBI36 |
| NG_016426.1:g.172261T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.566T>C MANE Select | ENSP00000259455.2:p.Leu189Ser | |
| ENST00000637410.1:n.344T>C | ||
| ENST00000637717.1:c.182T>C | ENSP00000490789.1:p.Leu61Ser | |
| ENST00000259455.3:c.566T>C | ENSP00000259455.2:p.Leu189Ser | |
| ENST00000477471.1:n.353T>C | ||
| ENST00000634227.1:n.340T>C | ||
| NM_005458.7:c.566T>C | NP_005449.5:p.Leu189Ser | |
| XM_017015331.2:c.272T>C | XP_016870820.1:p.Leu91Ser | |
| NM_005458.8:c.566T>C MANE Select | NP_005449.5:p.Leu189Ser |