Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19948297T>C , CM000670.2:g.19948297T>C | GRCh38 |
| NC_000008.10:g.19805808T>C , CM000670.1:g.19805808T>C | GRCh37 |
| NC_000008.9:g.19850088T>C | NCBI36 |
| NG_008855.1:g.14227T>C | |
| NG_008855.2:g.51581T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.206T>C MANE Select | NP_000228.1:p.Phe69Ser |
| ENST00000650287.1:c.206T>C MANE Select | ENSP00000497642.1:p.Phe69Ser |
| NM_000237.2:c.206T>C | NP_000228.1:p.Phe69Ser |
| ENST00000311322.8:c.206T>C | ENSP00000309757.6:p.Phe69Ser |
| ENST00000519773.1:c.*243T>C | ENSP00000431028.1:n.*243T>C |
| ENST00000520959.5:c.-23T>C | ENSP00000428496.1:n.-23T>C |
| ENST00000521994.1:n.391T>C | |
| ENST00000522701.5:c.206T>C | ENSP00000428557.1:p.Phe69Ser |
| ENST00000523696.1:n.275T>C | |
| ENST00000524029.5:c.206T>C | ENSP00000428237.1:p.Phe69Ser |