Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733844A>C , CM000679.2:g.47733844A>C | GRCh38 |
| NC_000017.10:g.45811210A>C , CM000679.1:g.45811210A>C | GRCh37 |
| NC_000017.9:g.43166209A>C | NCBI36 |
| NG_012166.1:g.5601A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.390A>C MANE Select | ENSP00000177694.1:p.Gly130= | |
| ENST00000177694.1:c.390A>C | ENSP00000177694.1:p.Gly130= | |
| ENST00000581328.1:n.420A>C | ||
| NM_013351.1:c.390A>C | NP_037483.1:p.Gly130= | |
| XM_011524698.1:c.390A>C | XP_011523000.1:p.Gly130= | |
| NM_013351.2:c.390A>C MANE Select | NP_037483.1:p.Gly130= |