Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169488004T>C , CM000664.2:g.169488004T>C | GRCh38 |
| NC_000002.11:g.170344514T>C , CM000664.1:g.170344514T>C | GRCh37 |
| NC_000002.10:g.170052760T>C | NCBI36 |
| NG_011567.1:g.13509T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295240.8:c.276T>C MANE Select | ENSP00000295240.3:p.Thr92= | |
| ENST00000295240.7:c.276T>C | ENSP00000295240.3:p.Thr92= | |
| ENST00000392663.6:c.276T>C | ENSP00000376431.2:p.Thr92= | |
| ENST00000443151.1:c.160T>C | ENSP00000406182.1:p.Ter54Arg | |
| ENST00000475571.1:n.243T>C | ||
| ENST00000513963.1:c.276T>C | ENSP00000424363.1:p.Thr92= | |
| NM_152384.2:c.276T>C | NP_689597.1:p.Thr92= | |
| NM_152384.3:c.276T>C MANE Select | NP_689597.1:p.Thr92= |