Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134475191C>T , CM000685.2:g.134475191C>T | GRCh38 |
| NC_000023.10:g.133609221C>T , CM000685.1:g.133609221C>T | GRCh37 |
| NC_000023.9:g.133436887C>T | NCBI36 |
| NG_012329.1:g.20047C>T | |
| NG_012329.2:g.20047C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.145C>T MANE Select | ENSP00000298556.7:p.Leu49Phe | |
| ENST00000298556.7:c.145C>T | ENSP00000298556.7:p.Leu49Phe | |
| ENST00000462974.5:n.303C>T | ||
| ENST00000475720.1:n.103C>T | ||
| NM_000194.2:c.145C>T | NP_000185.1:p.Leu49Phe | |
| XM_011531328.1:c.163C>T | XP_011529630.1:p.Leu55Phe | |
| NM_000194.3:c.145C>T MANE Select | NP_000185.1:p.Leu49Phe |