Linked Data
ClinVar Variation Id:
17650
dbSNP Id:
rs121912771
ExAC:
10:105793951 C / T
gnomAD v2:
10-105793951-C-T
gnomAD v3:
10-104034193-C-T
gnomAD v4:
10-104034193-C-T
PubMed:
PMID:9199555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034193C>T , CM000672.2:g.104034193C>T | GRCh38 |
| NC_000010.10:g.105793951C>T , CM000672.1:g.105793951C>T | GRCh37 |
| NC_000010.9:g.105783941C>T | NCBI36 |
| NG_007069.1:g.56688G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369733.8:c.3662G>A | ENSP00000358748.3:p.Arg1221Gln | |
| ENST00000648076.2:c.3908G>A MANE Select | ENSP00000497653.1:p.Arg1303Gln | |
| ENST00000353479.9:c.3908G>A | ENSP00000340937.5:p.Arg1303Gln | |
| ENST00000369733.7:c.3662G>A | ENSP00000358748.3:p.Arg1221Gln | |
| NM_000494.3:c.3908G>A | NP_000485.3:p.Arg1303Gln | |
| NM_000494.4:c.3908G>A MANE Select | NP_000485.3:p.Arg1303Gln |