Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731866C>A , CM000685.2:g.8731866C>A | GRCh38 |
| NC_000023.10:g.8699907C>A , CM000685.1:g.8699907C>A | GRCh37 |
| NC_000023.9:g.8659907C>A | NCBI36 |
| NG_007088.1:g.5321G>T | |
| NG_007088.2:g.5321G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.171G>T MANE Select | ENSP00000262648.3:p.Gln57His | |
| ENST00000262648.7:c.171G>T | ENSP00000262648.3:p.Gln57His | |
| ENST00000619786.1:c.168G>T | ENSP00000478734.1:p.Gln56His | |
| NM_000216.2:c.171G>T | NP_000207.2:p.Gln57His | |
| XM_005274501.3:c.171G>T | XP_005274558.1:p.Gln57His | |
| NM_000216.3:c.171G>T | NP_000207.2:p.Gln57His | |
| XM_005274501.4:c.171G>T | XP_005274558.1:p.Gln57His | |
| NM_000216.4:c.171G>T MANE Select | NP_000207.2:p.Gln57His |