Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48345145C>T , CM000675.2:g.48345145C>T | GRCh38 |
| NC_000013.10:g.48919281C>T , CM000675.1:g.48919281C>T | GRCh37 |
| NC_000013.9:g.47817282C>T | NCBI36 |
| NG_009009.1:g.46399C>T , LRG_517:g.46399C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.446C>T MANE Select | NP_000312.2:p.Ser149Leu |
| ENST00000267163.6:c.446C>T MANE Select | ENSP00000267163.4:p.Ser149Leu |
| NM_000321.2:c.446C>T , LRG_517t1:c.446C>T | NP_000312.2:p.Ser149Leu |
| ENST00000267163.4:c.446C>T | ENSP00000267163.4:p.Ser149Leu |
| ENST00000467505.5:c.138-14872C>T | ENSP00000434702.1:n.138-14872C>T |
| ENST00000525036.1:n.608C>T | |
| ENST00000650461.1:c.446C>T | ENSP00000497193.1:p.Ser149Leu |
| XM_011535171.1:c.185C>T | XP_011533473.1:p.Ser62Leu |
| XM_011535171.2:c.185C>T | XP_011533473.1:p.Ser62Leu |