Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995744C>T , CM000663.2:g.196995744C>T | GRCh38 |
| NC_000001.10:g.196964874C>T , CM000663.1:g.196964874C>T | GRCh37 |
| NC_000001.9:g.195231497C>T | NCBI36 |
| NG_016365.1:g.23208C>T , LRG_227:g.23208C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.380C>T | ENSP00000514393.1:p.Pro127Leu | |
| ENST00000699467.1:n.704C>T | ||
| ENST00000699468.1:c.-24-370C>T | ENSP00000514394.1:n.-24-370C>T | |
| ENST00000256785.5:c.635C>T MANE Select | ENSP00000256785.4:p.Pro212Leu | |
| ENST00000256785.4:c.635C>T | ENSP00000256785.4:p.Pro212Leu | |
| NM_030787.3:c.635C>T , LRG_227t1:c.635C>T | NP_110414.1:p.Pro212Leu | |
| XM_011510020.1:c.644C>T | XP_011508322.1:p.Pro215Leu | |
| XM_011510020.2:c.644C>T | XP_011508322.1:p.Pro215Leu | |
| NM_030787.4:c.635C>T MANE Select | NP_110414.1:p.Pro212Leu |