Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445430A>C , CM000673.2:g.2445430A>C | GRCh38 |
| NC_000011.9:g.2466660A>C , CM000673.1:g.2466660A>C | GRCh37 |
| NC_000011.8:g.2423236A>C | NCBI36 |
| NG_008935.1:g.5440A>C , LRG_287:g.5440A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000218.3:c.332A>C MANE Select | NP_000209.2:p.Tyr111Ser |
| ENST00000155840.12:c.332A>C MANE Select | ENSP00000155840.2:p.Tyr111Ser |
| NM_000218.2:c.332A>C , LRG_287t1:c.332A>C | NP_000209.2:p.Tyr111Ser |
| ENST00000155840.9:c.332A>C | ENSP00000155840.2:p.Tyr111Ser |
| ENST00000345015.4:n.109A>C | |
| ENST00000496887.6:c.71A>C | ENSP00000434560.1:p.Tyr24Ser |
| ENST00000496887.7:c.71A>C | ENSP00000434560.2:p.Tyr24Ser |
| ENST00000646564.2:c.332A>C | ENSP00000495806.2:p.Tyr111Ser |