Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648929C>G , CM000669.2:g.152648929C>G | GRCh38 |
| NC_000007.13:g.152346014C>G , CM000669.1:g.152346014C>G | GRCh37 |
| NC_000007.12:g.151976947C>G | NCBI36 |
| NG_027988.1:g.32237G>C | |
| NG_027988.2:g.32237G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.388G>C | ENSP00000513758.1:p.Asp130His | |
| ENST00000359321.2:c.556G>C MANE Select | ENSP00000352271.1:p.Asp186His | |
| ENST00000359321.1:c.556G>C | ENSP00000352271.1:p.Asp186His | |
| ENST00000495707.1:n.578G>C | ||
| NM_005431.1:c.556G>C | NP_005422.1:p.Asp186His | |
| NM_005431.2:c.556G>C MANE Select | NP_005422.1:p.Asp186His |