Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48859095T>G , CM000665.2:g.48859095T>G | GRCh38 |
| NC_000003.11:g.48896528T>G , CM000665.1:g.48896528T>G | GRCh37 |
| NC_000003.10:g.48871532T>G | NCBI36 |
| NG_008171.1:g.44802A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000387.6:c.715A>C MANE Select | NP_000378.1:p.Thr239Pro |
| ENST00000319017.5:c.715A>C MANE Select | ENSP00000326305.4:p.Thr239Pro |
| NM_000387.5:c.715A>C | NP_000378.1:p.Thr239Pro |
| ENST00000319017.4:c.715A>C | ENSP00000326305.4:p.Thr239Pro |
| ENST00000430379.5:c.496A>C | ENSP00000388986.1:p.Thr166Pro |
| ENST00000440964.1:c.*545A>C | ENSP00000388563.1:n.*545A>C |
| XM_006713327.1:c.536-1323A>C | XP_006713390.1:n.536-1323A>C |