Linked Data
dbSNP Id:
rs1599253639
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526888C>T , CM000681.2:g.7526888C>T | GRCh38 |
| NC_000019.9:g.7591774C>T , CM000681.1:g.7591774C>T | GRCh37 |
| NC_000019.8:g.7497774C>T | NCBI36 |
| NG_015806.1:g.9279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.533C>T MANE Select | ENSP00000264079.5:p.Ala178Val | |
| ENST00000264079.10:c.533C>T | ENSP00000264079.5:p.Ala178Val | |
| ENST00000394321.9:n.613C>T | ||
| ENST00000596008.1:n.495C>T | ||
| ENST00000598406.1:n.354C>T | ||
| ENST00000601003.1:c.533C>T | ENSP00000469074.1:p.Ala178Val | |
| NM_020533.2:c.533C>T | NP_065394.1:p.Ala178Val | |
| NM_020533.3:c.533C>T MANE Select | NP_065394.1:p.Ala178Val |