Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159304153G= , CM000663.2:g.159304153G= | GRCh38 |
| NC_000001.10:g.159273943G= , CM000663.1:g.159273943G= | GRCh37 |
| NC_000001.9:g.157540567G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000693622.1:c.302G= MANE Select | ENSP00000509626.1:p.Ser101= | |
| ENST00000368114.1:c.203G= | ENSP00000357096.1:p.Ser68= | |
| ENST00000368115.5:c.302G= | ENSP00000357097.1:p.Ser101= | |
| NM_002001.3:c.302G= | NP_001992.1:p.Ser101= | |
| NM_001387280.1:c.302G= MANE Select | NP_001374209.1:p.Ser101= | |
| NM_001387281.1:c.76+1279G= | NP_001374210.1:n.76+1279G= | |
| NM_001387282.1:c.203G= | NP_001374211.1:p.Ser68= | |
| NM_002001.4:c.302G= | NP_001992.1:p.Ser101= |