Linked Data
ClinVar Variation Id:
1591375
ClinVar RCV Id:
RCV002107651
dbSNP Id:
rs1160252551
gnomAD v2:
5-139494189-G-A
gnomAD v4:
5-140114604-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114604G>A , CM000667.2:g.140114604G>A | GRCh38 |
| NC_000005.9:g.139494189G>A , CM000667.1:g.139494189G>A | GRCh37 |
| NC_000005.8:g.139474373G>A | NCBI36 |
| NG_041813.1:g.5482G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.423G>A MANE Select | ENSP00000332706.3:p.Arg141= | |
| ENST00000651386.1:c.423G>A | ENSP00000499133.1:p.Arg141= | |
| ENST00000331327.4:c.423G>A | ENSP00000332706.3:p.Arg141= | |
| NM_005859.4:c.423G>A | NP_005850.1:p.Arg141= | |
| NM_005859.5:c.423G>A MANE Select | NP_005850.1:p.Arg141= |