Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48381429C>T , CM000675.2:g.48381429C>T | GRCh38 |
| NC_000013.10:g.48955565C>T , CM000675.1:g.48955565C>T | GRCh37 |
| NC_000013.9:g.47853566C>T | NCBI36 |
| NG_009009.1:g.82683C>T , LRG_517:g.82683C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1681C>T MANE Select | NP_000312.2:p.Leu561Phe |
| ENST00000267163.6:c.1681C>T MANE Select | ENSP00000267163.4:p.Leu561Phe |
| NM_000321.2:c.1681C>T , LRG_517t1:c.1681C>T | NP_000312.2:p.Leu561Phe |
| ENST00000267163.4:c.1681C>T | ENSP00000267163.4:p.Leu561Phe |
| ENST00000643064.1:c.180C>T | |
| ENST00000650461.1:c.1681C>T | ENSP00000497193.1:p.Leu561Phe |
| XM_011535171.1:c.1420C>T | XP_011533473.1:p.Leu474Phe |
| XM_011535171.2:c.1420C>T | XP_011533473.1:p.Leu474Phe |