Linked Data
ClinVar Variation Id:
1928992
ClinVar RCV Id:
RCV002618501
dbSNP Id:
rs986782158
gnomAD v2:
5-158750225-C-A
gnomAD v4:
5-159323217-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323217C>A , CM000667.2:g.159323217C>A | GRCh38 |
| NC_000005.9:g.158750225C>A , CM000667.1:g.158750225C>A | GRCh37 |
| NC_000005.8:g.158682803C>A | NCBI36 |
| NG_009618.1:g.12257G>T , LRG_71:g.12257G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-148-2697G>T | ENSP00000512849.1:n.-148-2697G>T | |
| ENST00000696751.1:c.201G>T | ENSP00000512850.1:p.Glu67Asp | |
| ENST00000231228.3:c.201G>T MANE Select | ENSP00000231228.2:p.Glu67Asp | |
| ENST00000231228.2:c.201G>T | ENSP00000231228.2:p.Glu67Asp | |
| NM_002187.2:c.201G>T , LRG_71t1:c.201G>T | NP_002178.2:p.Glu67Asp | |
| XR_001742945.1:n.148-2317C>A | ||
| NM_002187.3:c.201G>T MANE Select | NP_002178.2:p.Glu67Asp |