Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966406T>C , CM000681.2:g.48966406T>C | GRCh38 |
| NC_000019.9:g.49469663T>C , CM000681.1:g.49469663T>C | GRCh37 |
| NC_000019.8:g.54161475T>C | NCBI36 |
| NG_008152.1:g.6098T>C | |
| NG_012923.1:g.31948A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.375T>C MANE Select | ENSP00000366525.2:p.His125= | |
| ENST00000331825.10:c.375T>C | ENSP00000366525.2:p.His125= | |
| ENST00000622577.2:c.375T>C | ENSP00000484043.1:p.His125= | |
| NM_000146.3:c.375T>C | NP_000137.2:p.His125= | |
| XM_024451447.1:c.885T>C | XP_024307215.1:p.His295= | |
| NM_000146.4:c.375T>C MANE Select | NP_000137.2:p.His125= |