Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956254T>G , CM000670.2:g.24956254T>G | GRCh38 |
| NC_000008.10:g.24813768T>G , CM000670.1:g.24813768T>G | GRCh37 |
| NC_000008.9:g.24869685T>G | NCBI36 |
| NG_008492.1:g.5364A>C , LRG_259:g.5364A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.262A>C MANE Select | NP_006149.2:p.Thr88Pro |
| ENST00000610854.2:c.262A>C MANE Select | ENSP00000482169.2:p.Thr88Pro |
| NM_006158.4:c.262A>C , LRG_259t1:c.262A>C | NP_006149.2:p.Thr88Pro |
| ENST00000610854.1:c.262A>C | ENSP00000482169.1:p.Thr88Pro |
| ENST00000615973.1:n.468A>C | |
| ENST00000619417.1:c.262A>C | ENSP00000483690.1:p.Thr88Pro |