Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671042A>T , CM000670.2:g.86671042A>T | GRCh38 |
| NC_000008.10:g.87683270A>T , CM000670.1:g.87683270A>T | GRCh37 |
| NC_000008.9:g.87752386A>T | NCBI36 |
| NG_016980.1:g.77634T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.395T>A MANE Select | ENSP00000316605.5:p.Leu132Gln | |
| ENST00000680314.1:n.156T>A | ||
| ENST00000681746.1:c.395T>A | ENSP00000505959.1:p.Leu132Gln | |
| ENST00000320005.5:c.395T>A | ENSP00000316605.5:p.Leu132Gln | |
| NM_019098.4:c.395T>A | NP_061971.3:p.Leu132Gln | |
| XM_011517138.1:c.-20T>A | XP_011515440.1:n.-20T>A | |
| XM_011517138.2:c.-20T>A | XP_011515440.1:n.-20T>A | |
| NM_019098.5:c.395T>A MANE Select | NP_061971.3:p.Leu132Gln |