Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68439294A>G , CM000663.2:g.68439294A>G | GRCh38 |
| NC_000001.10:g.68904977A>G , CM000663.1:g.68904977A>G | GRCh37 |
| NC_000001.9:g.68677565A>G | NCBI36 |
| NG_008472.1:g.15666T>C | |
| NG_008472.2:g.15666T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.755T>C MANE Select | NP_000320.1:p.Phe252Ser |
| ENST00000262340.6:c.755T>C MANE Select | ENSP00000262340.5:p.Phe252Ser |
| NM_000329.2:c.755T>C | NP_000320.1:p.Phe252Ser |
| ENST00000262340.5:c.755T>C | ENSP00000262340.5:p.Phe252Ser |
| XM_017002027.1:c.479T>C | XP_016857516.1:p.Phe160Ser |