Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658586G= , CM000668.2:g.24658586G= | GRCh38 |
| NC_000006.11:g.24658814G= , CM000668.1:g.24658814G= | GRCh37 |
| NC_000006.10:g.24766793G= | NCBI36 |
| NG_052787.1:g.13302C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378198.9:c.400C= MANE Select | ENSP00000367440.4:p.Arg134= | |
| ENST00000341060.3:c.226C= | ENSP00000345345.3:p.Arg76= | |
| ENST00000378198.8:c.400C= | ENSP00000367440.4:p.Arg134= | |
| ENST00000478285.1:n.587C= | ||
| ENST00000478507.1:n.320-5433C= | ||
| NM_016614.2:c.400C= | NP_057698.2:p.Arg134= | |
| XR_926244.1:n.527C= | ||
| NM_016614.3:c.400C= MANE Select | NP_057698.2:p.Arg134= |