Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714014G>C , CM000681.2:g.6714014G>C | GRCh38 |
| NC_000019.9:g.6714025G>C , CM000681.1:g.6714025G>C | GRCh37 |
| NC_000019.8:g.6665025G>C | NCBI36 |
| NG_009557.1:g.11638C>G , LRG_27:g.11638C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.628C>G | ENSP00000512083.1:p.Leu210Val | |
| ENST00000245907.11:c.751C>G MANE Select | ENSP00000245907.4:p.Leu251Val | |
| ENST00000245907.10:c.751C>G | ENSP00000245907.4:p.Leu251Val | |
| ENST00000595577.1:n.255C>G | ||
| NM_000064.3:c.751C>G | NP_000055.2:p.Leu251Val | |
| NM_000064.4:c.751C>G MANE Select | NP_000055.2:p.Leu251Val |