Linked Data
MyVariant Identifiers:
chr18:g.13884669G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884670G>T , CM000680.2:g.13884670G>T | GRCh38 |
| NC_000018.9:g.13884669G>T , CM000680.1:g.13884669G>T | GRCh37 |
| NC_000018.8:g.13874669G>T | NCBI36 |
| NG_011819.1:g.35867C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327606.4:c.849C>A MANE Select | ENSP00000333821.2:p.Leu283= | |
| ENST00000327606.3:c.849C>A | ENSP00000333821.2:p.Leu283= | |
| NM_000529.2:c.849C>A MANE Select | NP_000520.1:p.Leu283= | |
| NM_001291911.1:c.849C>A | NP_001278840.1:p.Leu283= | |
| XM_017025781.1:c.849C>A | XP_016881270.1:p.Leu283= |