Linked Data
ClinVar Variation Id:
317237
dbSNP Id:
rs200488706
ExAC:
15:89755011 C / T
gnomAD v2:
15-89755011-C-T
gnomAD v3:
15-89211780-C-T
gnomAD v4:
15-89211780-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89211780C>T , CM000677.2:g.89211780C>T | GRCh38 |
| NC_000015.9:g.89755011C>T , CM000677.1:g.89755011C>T | GRCh37 |
| NC_000015.8:g.87556015C>T | NCBI36 |
| NG_008116.1:g.14912G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268125.10:c.647G>A MANE Select | ENSP00000268125.5:p.Arg216Gln | |
| ENST00000268125.9:c.647G>A | ENSP00000268125.5:p.Arg216Gln | |
| ENST00000563254.1:c.64G>A | ||
| ENST00000567787.1:c.*225G>A | ENSP00000457251.1:n.*225G>A | |
| NM_000326.4:c.647G>A | NP_000317.1:p.Arg216Gln | |
| XM_011521870.1:c.647G>A | XP_011520172.1:p.Arg216Gln | |
| XM_011521871.1:c.572G>A | XP_011520173.1:p.Arg191Gln | |
| XM_011521872.1:c.572G>A | XP_011520174.1:p.Arg191Gln | |
| XM_011521870.2:c.647G>A | XP_011520172.1:p.Arg216Gln | |
| XM_017022460.1:c.674G>A | XP_016877949.1:p.Arg225Gln | |
| NM_000326.5:c.647G>A MANE Select | NP_000317.1:p.Arg216Gln |