Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128286757G>A , CM000667.2:g.128286757G>A | GRCh38 |
| NC_000005.9:g.127622449G>A , CM000667.1:g.127622449G>A | GRCh37 |
| NC_000005.8:g.127650348G>A | NCBI36 |
| NG_008750.1:g.256287C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.6973C>T MANE Select | NP_001990.2:p.Pro2325Ser |
| ENST00000262464.9:c.6973C>T MANE Select | ENSP00000262464.4:p.Pro2325Ser |
| NM_001999.3:c.6973C>T | NP_001990.2:p.Pro2325Ser |
| ENST00000262464.8:c.6973C>T | ENSP00000262464.4:p.Pro2325Ser |
| ENST00000508053.5:c.6973C>T | ENSP00000424571.1:p.Pro2325Ser |
| ENST00000619499.4:c.6970C>T | ENSP00000482132.1:p.Pro2324Ser |
| ENST00000703783.1:n.3757C>T | |
| XM_017009228.2:c.6820C>T | XP_016864717.1:p.Pro2274Ser |