Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31595147T>C , CM000680.2:g.31595147T>C | GRCh38 |
| NC_000018.9:g.29175110T>C , CM000680.1:g.29175110T>C | GRCh37 |
| NC_000018.8:g.27429108T>C | NCBI36 |
| NG_009490.1:g.8381T>C , LRG_416:g.8381T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.228T>C MANE Select | ENSP00000237014.4:p.His76= | |
| ENST00000610404.5:c.132T>C | ENSP00000477599.2:p.His44= | |
| ENST00000649620.1:c.228T>C | ENSP00000497927.1:p.His76= | |
| ENST00000237014.7:c.228T>C | ENSP00000237014.3:p.His76= | |
| ENST00000541025.2:n.254T>C | ||
| ENST00000610404.4:c.228T>C | ENSP00000477599.1:p.His76= | |
| ENST00000613781.1:c.228T>C | ENSP00000479174.1:p.His76= | |
| NM_000371.3:c.228T>C , LRG_416t1:c.228T>C | NP_000362.1:p.His76= | |
| NM_000371.4:c.228T>C MANE Select | NP_000362.1:p.His76= |