Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45910090C>A , CM000673.2:g.45910090C>A | GRCh38 |
| NC_000011.9:g.45931641C>A , CM000673.1:g.45931641C>A | GRCh37 |
| NC_000011.8:g.45888217C>A | NCBI36 |
| NG_008460.1:g.13034G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.*164G>T MANE Select | ENSP00000368024.5:n.*164G>T | |
| ENST00000241041.7:c.1040G>T | ENSP00000241041.3:p.Ter347Leu | |
| NM_004813.2:c.*164G>T | NP_004804.1:n.*164G>T | |
| NM_057174.2:c.1040G>T | NP_476515.1:p.Ter347Leu | |
| NM_004813.3:c.*164G>T | NP_004804.1:n.*164G>T | |
| NM_004813.4:c.*164G>T MANE Select | NP_004804.2:n.*164G>T | |
| NM_057174.3:c.1040G>T | NP_476515.2:p.Ter347Leu |