Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046365T>C , CM000667.2:g.136046365T>C | GRCh38 |
| NC_000005.9:g.135382054T>C , CM000667.1:g.135382054T>C | GRCh37 |
| NC_000005.8:g.135409953T>C | NCBI36 |
| NG_012646.1:g.22471T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.329T>C MANE Select | ENSP00000416330.2:p.Leu110Pro | |
| ENST00000442011.6:c.329T>C | ENSP00000416330.2:p.Leu110Pro | |
| ENST00000504185.5:n.486T>C | ||
| ENST00000506699.5:n.394T>C | ||
| ENST00000507018.5:c.246T>C | ||
| ENST00000515433.1:n.621T>C | ||
| NM_000358.2:c.329T>C | NP_000349.1:p.Leu110Pro | |
| NM_000358.3:c.329T>C MANE Select | NP_000349.1:p.Leu110Pro |