Linked Data
ClinVar Variation Id:
541808
ClinVar RCV Id:
RCV000652137
dbSNP Id:
rs756537897
ExAC:
5:158750179 C / T
gnomAD v2:
5-158750179-C-T
gnomAD v3:
5-159323171-C-T
gnomAD v4:
5-159323171-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323171C>T , CM000667.2:g.159323171C>T | GRCh38 |
| NC_000005.9:g.158750179C>T , CM000667.1:g.158750179C>T | GRCh37 |
| NC_000005.8:g.158682757C>T | NCBI36 |
| NG_009618.1:g.12303G>A , LRG_71:g.12303G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-148-2651G>A | ENSP00000512849.1:n.-148-2651G>A | |
| ENST00000696751.1:c.247G>A | ENSP00000512850.1:p.Gly83Arg | |
| ENST00000231228.3:c.247G>A MANE Select | ENSP00000231228.2:p.Gly83Arg | |
| ENST00000231228.2:c.247G>A | ENSP00000231228.2:p.Gly83Arg | |
| NM_002187.2:c.247G>A , LRG_71t1:c.247G>A | NP_002178.2:p.Gly83Arg | |
| XR_001742945.1:n.148-2363C>T | ||
| NM_002187.3:c.247G>A MANE Select | NP_002178.2:p.Gly83Arg |