Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.694927G>A , CM000681.2:g.694927G>A | GRCh38 |
| NC_000019.9:g.694927G>A , CM000681.1:g.694927G>A | GRCh37 |
| NC_000019.8:g.645927G>A | NCBI36 |
| NG_051189.1:g.5605C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329267.9:c.120C>T MANE Select | ENSP00000327386.6:p.Thr40= | |
| ENST00000329267.8:c.120C>T | ENSP00000327386.6:p.Thr40= | |
| ENST00000613411.4:c.123C>T | ENSP00000482358.1:p.Thr41= | |
| NM_001308209.1:c.120C>T | NP_001295138.1:p.Thr40= | |
| NM_214710.3:c.123C>T | NP_999875.1:p.Thr41= | |
| NM_214710.4:c.123C>T | NP_999875.1:p.Thr41= | |
| NM_001308209.2:c.120C>T MANE Select | NP_001295138.2:p.Thr40= | |
| NM_214710.5:c.123C>T | NP_999875.2:p.Thr41= |