Linked Data
ClinVar Variation Id:
16716
dbSNP Id:
rs104894677
gnomAD v3:
19-51347006-C-T
gnomAD v4:
19-51347006-C-T
PubMed:
PMID:7912128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51347006C>T , CM000681.2:g.51347006C>T | GRCh38 |
| NC_000019.9:g.51850260C>T , CM000681.1:g.51850260C>T | GRCh37 |
| NC_000019.8:g.56542072C>T | NCBI36 |
| NG_007115.1:g.24413G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309244.9:c.491G>A MANE Select | ENSP00000311930.3:p.Arg164Gln | |
| ENST00000309244.8:c.491G>A | ENSP00000311930.3:p.Arg164Gln | |
| ENST00000354232.8:c.764G>A | ENSP00000346173.3:p.Arg255Gln | |
| ENST00000594361.1:n.1525G>A | ||
| ENST00000596253.1:c.332G>A | ENSP00000469628.1:p.Arg111Gln | |
| NM_001014763.1:c.764G>A | NP_001014763.1:p.Arg255Gln | |
| NM_001985.2:c.491G>A | NP_001976.1:p.Arg164Gln | |
| XM_024451418.1:c.380G>A | XP_024307186.1:p.Arg127Gln | |
| NM_001985.3:c.491G>A MANE Select | NP_001976.1:p.Arg164Gln |