Linked Data
gnomAD v4:
19-6714047-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714047C>T , CM000681.2:g.6714047C>T | GRCh38 |
| NC_000019.9:g.6714058C>T , CM000681.1:g.6714058C>T | GRCh37 |
| NC_000019.8:g.6665058C>T | NCBI36 |
| NG_009557.1:g.11605G>A , LRG_27:g.11605G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.595G>A | ENSP00000512083.1:p.Glu199Lys | |
| ENST00000245907.11:c.718G>A MANE Select | ENSP00000245907.4:p.Glu240Lys | |
| ENST00000245907.10:c.718G>A | ENSP00000245907.4:p.Glu240Lys | |
| ENST00000595577.1:n.222G>A | ||
| NM_000064.3:c.718G>A | NP_000055.2:p.Glu240Lys | |
| NM_000064.4:c.718G>A MANE Select | NP_000055.2:p.Glu240Lys |