Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68838619T>C , CM000685.2:g.68838619T>C | GRCh38 |
| NC_000023.10:g.68058462T>C , CM000685.1:g.68058462T>C | GRCh37 |
| NC_000023.9:g.67975187T>C | NCBI36 |
| NG_008887.1:g.14623T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004429.5:c.131T>C MANE Select | NP_004420.1:p.Phe44Ser |
| ENST00000204961.5:c.131T>C MANE Select | ENSP00000204961.4:p.Phe44Ser |
| NM_004429.4:c.131T>C | NP_004420.1:p.Phe44Ser |
| ENST00000204961.4:c.131T>C | ENSP00000204961.4:p.Phe44Ser |