Linked Data
dbSNP Id:
rs369639773
ExAC:
17:39740643 G / T
gnomAD v2:
17-39740643-G-T
gnomAD v4:
17-41584391-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584391G>T , CM000679.2:g.41584391G>T | GRCh38 |
| NC_000017.10:g.39740643G>T , CM000679.1:g.39740643G>T | GRCh37 |
| NC_000017.9:g.36994169G>T | NCBI36 |
| NG_008624.1:g.7505C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.631C>A MANE Select | ENSP00000167586.6:p.Arg211Ser | |
| ENST00000167586.6:c.631C>A | ENSP00000167586.6:p.Arg211Ser | |
| ENST00000476662.1:n.81C>A | ||
| NM_000526.4:c.631C>A | NP_000517.2:p.Arg211Ser | |
| NM_000526.5:c.631C>A MANE Select | NP_000517.3:p.Arg211Ser |