Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911396C>T , CM000679.2:g.42911396C>T | GRCh38 |
| NC_000017.10:g.41063413C>T , CM000679.1:g.41063413C>T | GRCh37 |
| NC_000017.9:g.38316939C>T | NCBI36 |
| NG_011808.1:g.15599C>T , LRG_147:g.15599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.1044C>T MANE Select | ENSP00000253801.1:p.Val348= | |
| ENST00000253801.6:c.1044C>T | ENSP00000253801.1:p.Val348= | |
| ENST00000585489.1:c.*436C>T | ENSP00000466202.1:n.*436C>T | |
| NM_000151.3:c.1044C>T | NP_000142.2:p.Val348= | |
| NM_001270397.1:c.*436C>T | NP_001257326.1:n.*436C>T | |
| NM_000151.4:c.1044C>T MANE Select | NP_000142.2:p.Val348= | |
| NM_001270397.2:c.*436C>T | NP_001257326.1:n.*436C>T |