Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128278649G>A , CM000667.2:g.128278649G>A | GRCh38 |
| NC_000005.9:g.127614341G>A , CM000667.1:g.127614341G>A | GRCh37 |
| NC_000005.8:g.127642240G>A | NCBI36 |
| NG_008750.1:g.264395C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.7331C>T MANE Select | NP_001990.2:p.Thr2444Ile |
| ENST00000262464.9:c.7331C>T MANE Select | ENSP00000262464.4:p.Thr2444Ile |
| NM_001999.3:c.7331C>T | NP_001990.2:p.Thr2444Ile |
| ENST00000262464.8:c.7331C>T | ENSP00000262464.4:p.Thr2444Ile |
| ENST00000508053.5:c.7331C>T | ENSP00000424571.1:p.Thr2444Ile |
| ENST00000619499.4:c.7328C>T | ENSP00000482132.1:p.Thr2443Ile |
| ENST00000703783.1:n.4115C>T | |
| XM_017009228.2:c.7178C>T | XP_016864717.1:p.Thr2393Ile |