Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16306357A>G , CM000668.2:g.16306357A>G | GRCh38 |
| NC_000006.11:g.16306588A>G , CM000668.1:g.16306588A>G | GRCh37 |
| NC_000006.10:g.16414567A>G | NCBI36 |
| NG_011571.1:g.460134T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436367.6:c.2420T>C MANE Select | ENSP00000416360.1:p.Ile807Thr | |
| ENST00000244769.8:c.2420T>C | ENSP00000244769.3:p.Ile807Thr | |
| ENST00000436367.5:c.2420T>C | ENSP00000416360.1:p.Ile807Thr | |
| NM_000332.3:c.2420T>C | NP_000323.2:p.Ile807Thr | |
| NM_001128164.1:c.2420T>C | NP_001121636.1:p.Ile807Thr | |
| NM_001357857.1:c.*1833T>C | NP_001344786.1:n.*1833T>C | |
| NM_001357857.2:c.*1833T>C | NP_001344786.1:n.*1833T>C | |
| NM_001128164.2:c.2420T>C MANE Select | NP_001121636.1:p.Ile807Thr | |
| NM_000332.4:c.2420T>C | NP_000323.2:p.Ile807Thr |