Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96283577A>G , CM000664.2:g.96283577A>G | GRCh38 |
| NC_000002.11:g.96949315A>G , CM000664.1:g.96949315A>G | GRCh37 |
| NC_000002.10:g.96313042A>G | NCBI36 |
| NG_016973.1:g.26983T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014014.5:c.4721T>C MANE Select | NP_054733.2:p.Ile1574Thr |
| ENST00000323853.10:c.4721T>C MANE Select | ENSP00000317123.5:p.Ile1574Thr |
| NM_014014.4:c.4721T>C | NP_054733.2:p.Ile1574Thr |
| ENST00000323853.9:c.4721T>C | ENSP00000317123.5:p.Ile1574Thr |
| ENST00000429650.1:c.302T>C | ENSP00000387870.1:p.Ile101Thr |
| ENST00000480242.1:n.1199T>C | |
| ENST00000497539.5:n.695T>C |