Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96399010A>G , CM000667.2:g.96399010A>G | GRCh38 |
| NC_000005.9:g.95734714A>G , CM000667.1:g.95734714A>G | GRCh37 |
| NC_000005.8:g.95760470A>G | NCBI36 |
| NG_021161.1:g.39272T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.1457T>C MANE Select | ENSP00000308024.2:p.Ile486Thr | |
| ENST00000311106.7:c.1457T>C | ENSP00000308024.2:p.Ile486Thr | |
| ENST00000508626.5:c.1316T>C | ENSP00000421600.1:p.Ile439Thr | |
| ENST00000513085.1:n.600T>C | ||
| NM_000439.4:c.1457T>C | NP_000430.3:p.Ile486Thr | |
| NM_001177875.1:c.1316T>C | NP_001171346.1:p.Ile439Thr | |
| NR_130776.1:n.354+19358A>G | ||
| NM_000439.5:c.1457T>C MANE Select | NP_000430.3:p.Ile486Thr | |
| NM_001177875.2:c.1316T>C | NP_001171346.1:p.Ile439Thr |