Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31668533C>T , CM000683.2:g.31668533C>T | GRCh38 |
| NC_000021.8:g.33040846C>T , CM000683.1:g.33040846C>T | GRCh37 |
| NC_000021.7:g.31962717C>T | NCBI36 |
| NG_008689.1:g.13912C>T , LRG_652:g.13912C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.420C>T MANE Select | NP_000445.1:p.Asn140= |
| ENST00000270142.11:c.420C>T MANE Select | ENSP00000270142.7:p.Asn140= |
| NM_000454.4:c.420C>T , LRG_652t1:c.420C>T | NP_000445.1:p.Asn140= |
| ENST00000270142.10:c.420C>T | ENSP00000270142.6:p.Asn140= |
| ENST00000389995.4:c.363C>T | ENSP00000374645.4:p.Asn121= |
| ENST00000470944.1:n.1348C>T |