Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713233A>C , CM000681.2:g.6713233A>C | GRCh38 |
| NC_000019.9:g.6713244A>C , CM000681.1:g.6713244A>C | GRCh37 |
| NC_000019.8:g.6664244A>C | NCBI36 |
| NG_009557.1:g.12419T>G , LRG_27:g.12419T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.836T>G | ENSP00000512083.1:p.Val279Gly | |
| ENST00000695654.1:c.83T>G | ENSP00000512085.1:p.Val28Gly | |
| ENST00000695692.1:n.283T>G | ||
| ENST00000245907.11:c.959T>G MANE Select | ENSP00000245907.4:p.Val320Gly | |
| ENST00000245907.10:c.959T>G | ENSP00000245907.4:p.Val320Gly | |
| ENST00000594270.5:n.83T>G | ||
| ENST00000595577.1:n.463T>G | ||
| ENST00000597442.5:n.209T>G | ||
| NM_000064.3:c.959T>G | NP_000055.2:p.Val320Gly | |
| NM_000064.4:c.959T>G MANE Select | NP_000055.2:p.Val320Gly |