Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353184G>C , CM000674.2:g.69353184G>C | GRCh38 |
| NC_000012.11:g.69746964G>C , CM000674.1:g.69746964G>C | GRCh37 |
| NC_000012.10:g.68033231G>C | NCBI36 |
| NG_008195.1:g.9831G>C , LRG_768:g.9831G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.412G>C MANE Select | ENSP00000261267.2:p.Asp138His | |
| ENST00000261267.6:c.412G>C | ENSP00000261267.2:p.Asp138His | |
| ENST00000549690.1:c.333G>C | ENSP00000449898.1:p.Glu111Asp | |
| NM_000239.2:c.412G>C , LRG_768t1:c.412G>C | NP_000230.1:p.Asp138His | |
| NM_000239.3:c.412G>C MANE Select | NP_000230.1:p.Asp138His |