Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128393200A>G , CM000667.2:g.128393200A>G | GRCh38 |
| NC_000005.9:g.127728893A>G , CM000667.1:g.127728893A>G | GRCh37 |
| NC_000005.8:g.127756792A>G | NCBI36 |
| NG_008750.1:g.149843T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.1400T>C MANE Select | NP_001990.2:p.Phe467Ser |
| ENST00000262464.9:c.1400T>C MANE Select | ENSP00000262464.4:p.Phe467Ser |
| NM_001999.3:c.1400T>C | NP_001990.2:p.Phe467Ser |
| ENST00000262464.8:c.1400T>C | ENSP00000262464.4:p.Phe467Ser |
| ENST00000508053.5:c.1400T>C | ENSP00000424571.1:p.Phe467Ser |
| ENST00000508989.5:c.1301T>C | ENSP00000425596.1:p.Phe434Ser |
| ENST00000619499.4:c.1397T>C | ENSP00000482132.1:p.Phe466Ser |
| ENST00000703787.1:n.1107T>C | |
| XM_017009228.2:c.1247T>C | XP_016864717.1:p.Phe416Ser |