Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100669354T>C , CM000685.2:g.100669354T>C | GRCh38 |
| NC_000023.10:g.99924351T>C , CM000685.1:g.99924351T>C | GRCh37 |
| NC_000023.9:g.99811007T>C | NCBI36 |
| NG_021337.1:g.30189T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.1202T>C MANE Select | ENSP00000362095.3:p.Ile401Thr | |
| ENST00000638920.1:n.1205T>C | ||
| ENST00000640282.1:c.142-1453T>C | ENSP00000491188.1:n.142-1453T>C | |
| ENST00000373004.3:c.1202T>C | ENSP00000362095.3:p.Ile401Thr | |
| NM_014467.2:c.1202T>C | NP_055282.1:p.Ile401Thr | |
| XM_005262121.2:c.1202T>C | XP_005262178.1:p.Ile401Thr | |
| NM_014467.3:c.1202T>C MANE Select | NP_055282.1:p.Ile401Thr |