Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24953646G>A , CM000670.2:g.24953646G>A | GRCh38 |
| NC_000008.10:g.24811160G>A , CM000670.1:g.24811160G>A | GRCh37 |
| NC_000008.9:g.24867077G>A | NCBI36 |
| NG_008492.1:g.7972C>T , LRG_259:g.7972C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.1319C>T MANE Select | NP_006149.2:p.Pro440Leu |
| ENST00000610854.2:c.1319C>T MANE Select | ENSP00000482169.2:p.Pro440Leu |
| NM_006158.4:c.1319C>T , LRG_259t1:c.1319C>T | NP_006149.2:p.Pro440Leu |
| ENST00000610854.1:c.1319C>T | ENSP00000482169.1:p.Pro440Leu |
| ENST00000619417.1:c.*184C>T | ENSP00000483690.1:n.*184C>T |