Linked Data
MyVariant Identifiers:
chr19:g.7598669G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533783G>C , CM000681.2:g.7533783G>C | GRCh38 |
| NC_000019.9:g.7598669G>C , CM000681.1:g.7598669G>C | GRCh37 |
| NC_000019.8:g.7504669G>C | NCBI36 |
| NG_013374.1:g.4632G>C | |
| NG_015806.1:g.16174G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1731G>C MANE Select | ENSP00000264079.5:p.Leu577= | |
| ENST00000264079.10:c.1731G>C | ENSP00000264079.5:p.Leu577= | |
| ENST00000394321.9:n.2046G>C | ||
| ENST00000599334.1:c.459G>C | ||
| ENST00000601870.1:c.84G>C | ||
| ENST00000602227.1:n.285G>C | ||
| NM_020533.2:c.1731G>C | NP_065394.1:p.Leu577= | |
| NM_020533.3:c.1731G>C MANE Select | NP_065394.1:p.Leu577= |