Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2530132G>A , CM000663.2:g.2530132G>A | GRCh38 |
| NC_000001.10:g.2461571G>A , CM000663.1:g.2461571G>A | GRCh37 |
| NC_000001.9:g.2451431G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378453.4:c.33C>T MANE Select | ENSP00000367714.3:p.Leu11= | |
| ENST00000378453.3:c.33C>T | ENSP00000367714.3:p.Leu11= | |
| NM_001010926.3:c.33C>T | NP_001010926.1:p.Leu11= | |
| XM_005244751.3:c.33C>T | XP_005244808.1:p.Leu11= | |
| XM_005244751.4:c.33C>T | XP_005244808.1:p.Leu11= | |
| NM_001010926.4:c.33C>T MANE Select | NP_001010926.1:p.Leu11= |