Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160135195C>T , CM000663.2:g.160135195C>T | GRCh38 |
| NC_000001.10:g.160104985C>T , CM000663.1:g.160104985C>T | GRCh37 |
| NC_000001.9:g.158371609C>T | NCBI36 |
| NG_008014.1:g.24438C>T , LRG_6:g.24438C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000702.4:c.2015C>T MANE Select | NP_000693.1:p.Ser672Leu |
| ENST00000361216.8:c.2015C>T MANE Select | ENSP00000354490.3:p.Ser672Leu |
| NM_000702.3:c.2015C>T | NP_000693.1:p.Ser672Leu |
| ENST00000361216.7:c.2015C>T | ENSP00000354490.3:p.Ser672Leu |
| ENST00000392233.7:c.2015C>T | ENSP00000376066.3:p.Ser672Leu |
| ENST00000447527.1:c.1147C>T | |
| ENST00000472488.5:n.2118C>T |