Linked Data
dbSNP Id:
rs1379594730
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713315T>C , CM000681.2:g.6713315T>C | GRCh38 |
| NC_000019.9:g.6713326T>C , CM000681.1:g.6713326T>C | GRCh37 |
| NC_000019.8:g.6664326T>C | NCBI36 |
| NG_009557.1:g.12337A>G , LRG_27:g.12337A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.754A>G | ENSP00000512083.1:p.Ile252Val | |
| ENST00000695654.1:c.1A>G | ENSP00000512085.1:p.Ile1Val | |
| ENST00000695692.1:n.201A>G | ||
| ENST00000245907.11:c.877A>G MANE Select | ENSP00000245907.4:p.Ile293Val | |
| ENST00000245907.10:c.877A>G | ENSP00000245907.4:p.Ile293Val | |
| ENST00000594270.5:n.1A>G | ||
| ENST00000595577.1:n.381A>G | ||
| ENST00000597442.5:n.127A>G | ||
| NM_000064.3:c.877A>G | NP_000055.2:p.Ile293Val | |
| NM_000064.4:c.877A>G MANE Select | NP_000055.2:p.Ile293Val |