Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24953557G>A , CM000670.2:g.24953557G>A | GRCh38 |
| NC_000008.10:g.24811071G>A , CM000670.1:g.24811071G>A | GRCh37 |
| NC_000008.9:g.24866988G>A | NCBI36 |
| NG_008492.1:g.8061C>T , LRG_259:g.8061C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.1408C>T MANE Select | NP_006149.2:p.Pro470Ser |
| ENST00000610854.2:c.1408C>T MANE Select | ENSP00000482169.2:p.Pro470Ser |
| NM_006158.4:c.1408C>T , LRG_259t1:c.1408C>T | NP_006149.2:p.Pro470Ser |
| ENST00000610854.1:c.1408C>T | ENSP00000482169.1:p.Pro470Ser |
| ENST00000619417.1:c.*273C>T | ENSP00000483690.1:n.*273C>T |