Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38951747C>T , CM000682.2:g.38951747C>T | GRCh38 |
| NC_000020.10:g.37580390C>T , CM000682.1:g.37580390C>T | GRCh37 |
| NC_000020.9:g.37013804C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030919.3:c.985C>T MANE Select | NP_112181.3:p.Leu329= |
| ENST00000619850.2:c.985C>T MANE Select | ENSP00000481465.1:p.Leu329= |
| NM_030919.2:c.1075C>T | NP_112181.2:p.Leu359= |
| ENST00000217429.8:c.1075C>T | ENSP00000217429.4:p.Leu359= |
| ENST00000619304.4:c.1075C>T | ENSP00000481110.1:p.Leu359= |
| ENST00000619850.1:c.985C>T | ENSP00000481465.1:p.Leu329= |
| XM_011529073.1:c.1048C>T | XP_011527375.1:p.Leu350= |
| XM_017028088.1:c.487C>T | XP_016883577.1:p.Leu163= |