Linked Data
ClinVar Variation Id:
1375453
ClinVar RCV Id:
RCV001902443
dbSNP Id:
rs775605318
ExAC:
15:90774720 C / T
gnomAD v2:
15-90774720-C-T
gnomAD v3:
15-90231488-C-T
gnomAD v4:
15-90231488-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90231488C>T , CM000677.2:g.90231488C>T | GRCh38 |
| NC_000015.9:g.90774720C>T , CM000677.1:g.90774720C>T | GRCh37 |
| NC_000015.8:g.88575724C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695870.1:n.2074G>A | ||
| ENST00000695871.1:n.488G>A | ||
| ENST00000695872.1:n.247G>A | ||
| ENST00000695873.1:n.252G>A | ||
| ENST00000695874.1:n.384G>A | ||
| ENST00000328649.11:c.215G>A MANE Select | ENSP00000333873.6:p.Arg72Gln | |
| ENST00000650306.1:c.-230G>A | ENSP00000497451.1:n.-230G>A | |
| ENST00000328649.10:c.215G>A | ENSP00000333873.6:p.Arg72Gln | |
| ENST00000612800.1:c.335G>A | ENSP00000479860.1:p.Arg112Gln | |
| NM_001277764.1:c.335G>A | NP_001264693.1:p.Arg112Gln | |
| NM_006384.3:c.215G>A | NP_006375.2:p.Arg72Gln | |
| NR_102427.1:n.401G>A | ||
| NR_102428.1:n.267G>A | ||
| XM_006720375.1:c.215G>A | XP_006720438.1:p.Arg72Gln | |
| XM_006720375.2:c.215G>A | XP_006720438.1:p.Arg72Gln | |
| NM_006384.4:c.215G>A MANE Select | NP_006375.2:p.Arg72Gln | |
| NM_001277764.2:c.335G>A | NP_001264693.1:p.Arg112Gln |