Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.37815335G>A , CM000663.2:g.37815335G>A | GRCh38 |
| NC_000001.10:g.38281007G>A , CM000663.1:g.38281007G>A | GRCh37 |
| NC_000001.9:g.38053594G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005955.3:c.2063C>T MANE Select | NP_005946.2:p.Ser688Phe |
| ENST00000373036.5:c.2063C>T MANE Select | ENSP00000362127.3:p.Ser688Phe |
| NM_005955.2:c.2063C>T | NP_005946.2:p.Ser688Phe |
| ENST00000373036.4:c.2063C>T | ENSP00000362127.3:p.Ser688Phe |
| XM_011541491.1:c.2063C>T | XP_011539793.1:p.Ser688Phe |
| XM_011541491.2:c.2063C>T | XP_011539793.1:p.Ser688Phe |
| XM_011541492.1:c.2063C>T | XP_011539794.1:p.Ser688Phe |
| XM_011541494.1:c.1136C>T | XP_011539796.1:p.Ser379Phe |