Linked Data
ClinVar Variation Id:
1446196
ClinVar RCV Id:
RCV001958452
dbSNP Id:
rs751689646
ExAC:
5:158750141 C / G
gnomAD v2:
5-158750141-C-G
gnomAD v3:
5-159323133-C-G
gnomAD v4:
5-159323133-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323133C>G , CM000667.2:g.159323133C>G | GRCh38 |
| NC_000005.9:g.158750141C>G , CM000667.1:g.158750141C>G | GRCh37 |
| NC_000005.8:g.158682719C>G | NCBI36 |
| NG_009618.1:g.12341G>C , LRG_71:g.12341G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-148-2613G>C | ENSP00000512849.1:n.-148-2613G>C | |
| ENST00000696751.1:c.285G>C | ENSP00000512850.1:p.Glu95Asp | |
| ENST00000231228.3:c.285G>C MANE Select | ENSP00000231228.2:p.Glu95Asp | |
| ENST00000231228.2:c.285G>C | ENSP00000231228.2:p.Glu95Asp | |
| NM_002187.2:c.285G>C , LRG_71t1:c.285G>C | NP_002178.2:p.Glu95Asp | |
| XR_001742945.1:n.148-2401C>G | ||
| NM_002187.3:c.285G>C MANE Select | NP_002178.2:p.Glu95Asp |