Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293271T>C , CM000684.2:g.45293271T>C | GRCh38 |
| NC_000022.10:g.45689152T>C , CM000684.1:g.45689152T>C | GRCh37 |
| NC_000022.9:g.44067816T>C | NCBI36 |
| NG_016203.1:g.13285T>C | |
| NG_016203.2:g.13285T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.662T>C MANE Select | ENSP00000216211.4:p.Phe221Ser | |
| ENST00000216211.8:c.662T>C | ENSP00000216211.4:p.Phe221Ser | |
| ENST00000396082.2:c.299T>C | ENSP00000379391.2:p.Phe100Ser | |
| NM_001167574.1:c.299T>C | NP_001161046.1:p.Phe100Ser | |
| NM_006953.3:c.662T>C | NP_008884.1:p.Phe221Ser | |
| XM_011530364.1:c.668T>C | XP_011528666.1:p.Phe223Ser | |
| XM_011530365.1:c.305T>C | XP_011528667.1:p.Phe102Ser | |
| NM_006953.4:c.662T>C MANE Select | NP_008884.1:p.Phe221Ser | |
| NM_001167574.2:c.299T>C | NP_001161046.1:p.Phe100Ser |