Linked Data
ClinVar Variation Id:
866787
dbSNP Id:
rs61750188
gnomAD v2:
17-7919141-A-C
gnomAD v3:
17-8015823-A-C
gnomAD v4:
17-8015823-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015823A>C , CM000679.2:g.8015823A>C | GRCh38 |
| NC_000017.10:g.7919141A>C , CM000679.1:g.7919141A>C | GRCh37 |
| NC_000017.9:g.7859866A>C | NCBI36 |
| NG_009092.1:g.18154A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.3025A>C MANE Select | ENSP00000254854.4:p.Met1009Leu | |
| ENST00000254854.4:c.3025A>C | ENSP00000254854.4:p.Met1009Leu | |
| NM_000180.3:c.3025A>C | NP_000171.1:p.Met1009Leu | |
| XM_011523816.1:c.3025A>C | XP_011522118.1:p.Met1009Leu | |
| NM_000180.4:c.3025A>C MANE Select | NP_000171.1:p.Met1009Leu |