Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56137256G>T , CM000674.2:g.56137256G>T | GRCh38 |
| NC_000012.11:g.56531040G>T , CM000674.1:g.56531040G>T | GRCh37 |
| NC_000012.10:g.54817307G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394048.10:c.1821G>T MANE Select | ENSP00000377612.5:p.Thr607= | |
| ENST00000267113.4:c.1851G>T | ENSP00000267113.4:p.Thr617= | |
| ENST00000394048.9:c.1821G>T | ENSP00000377612.5:p.Thr607= | |
| NM_001184796.1:c.1851G>T | NP_001171725.1:p.Thr617= | |
| NM_015292.2:c.1821G>T | NP_056107.1:p.Thr607= | |
| NM_001184796.2:c.1851G>T | NP_001171725.1:p.Thr617= | |
| NM_015292.3:c.1821G>T MANE Select | NP_056107.1:p.Thr607= |