Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124875150T>C , CM000673.2:g.124875150T>C | GRCh38 |
| NC_000011.9:g.124745046T>C , CM000673.1:g.124745046T>C | GRCh37 |
| NC_000011.8:g.124250256T>C | NCBI36 |
| NG_016214.1:g.14742T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022370.4:c.2113T>C MANE Select | NP_071765.2:p.Ser705Pro |
| ENST00000397801.6:c.2113T>C MANE Select | ENSP00000380903.1:p.Ser705Pro |
| NM_022370.3:c.2113T>C | NP_071765.2:p.Ser705Pro |
| ENST00000397801.5:c.2113T>C | ENSP00000380903.1:p.Ser705Pro |
| ENST00000538940.5:c.2047T>C | ENSP00000441797.1:p.Ser683Pro |
| XM_011542953.1:c.3085T>C | XP_011541255.1:p.Ser1029Pro |
| XM_017018122.1:c.2047T>C | XP_016873611.1:p.Ser683Pro |