Linked Data
dbSNP Id:
rs2022600162
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528203C>G , CM000681.2:g.7528203C>G | GRCh38 |
| NC_000019.9:g.7593089C>G , CM000681.1:g.7593089C>G | GRCh37 |
| NC_000019.8:g.7499089C>G | NCBI36 |
| NG_015806.1:g.10594C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.823C>G MANE Select | ENSP00000264079.5:p.Leu275Val | |
| ENST00000264079.10:c.823C>G | ENSP00000264079.5:p.Leu275Val | |
| ENST00000394321.9:n.1138C>G | ||
| NM_020533.2:c.823C>G | NP_065394.1:p.Leu275Val | |
| NM_020533.3:c.823C>G MANE Select | NP_065394.1:p.Leu275Val |