Linked Data
ClinVar Variation Id:
772373
dbSNP Id:
rs762183564
gnomAD v2:
5-139494363-T-C
gnomAD v3:
5-140114778-T-C
gnomAD v4:
5-140114778-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114778T>C , CM000667.2:g.140114778T>C | GRCh38 |
| NC_000005.9:g.139494363T>C , CM000667.1:g.139494363T>C | GRCh37 |
| NC_000005.8:g.139474547T>C | NCBI36 |
| NG_041813.1:g.5656T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.597T>C MANE Select | ENSP00000332706.3:p.Arg199= | |
| ENST00000651386.1:c.597T>C | ENSP00000499133.1:p.Arg199= | |
| ENST00000331327.4:c.597T>C | ENSP00000332706.3:p.Arg199= | |
| NM_005859.4:c.597T>C | NP_005850.1:p.Arg199= | |
| NM_005859.5:c.597T>C MANE Select | NP_005850.1:p.Arg199= |