Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10514734A>G , CM000681.2:g.10514734A>G | GRCh38 |
| NC_000019.9:g.10625410A>G , CM000681.1:g.10625410A>G | GRCh37 |
| NC_000019.8:g.10486410A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333430.6:c.278T>C MANE Select | ENSP00000328472.3:p.Ile93Thr | |
| ENST00000333430.5:c.278T>C | ENSP00000328472.3:p.Ile93Thr | |
| ENST00000439028.3:c.278T>C | ENSP00000416915.2:p.Ile93Thr | |
| ENST00000617721.1:c.249+29T>C | ENSP00000481239.1:n.249+29T>C | |
| NM_001166215.1:c.278T>C | NP_001159687.1:p.Ile93Thr | |
| NM_030760.4:c.278T>C | NP_110387.1:p.Ile93Thr | |
| NM_030760.5:c.278T>C MANE Select | NP_110387.1:p.Ile93Thr | |
| NM_001166215.2:c.278T>C | NP_001159687.1:p.Ile93Thr |