Linked Data
dbSNP Id:
rs1413040642
gnomAD v2:
17-7918765-C-A
gnomAD v3:
17-8015447-C-A
gnomAD v4:
17-8015447-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015447C>A , CM000679.2:g.8015447C>A | GRCh38 |
| NC_000017.10:g.7918765C>A , CM000679.1:g.7918765C>A | GRCh37 |
| NC_000017.9:g.7859490C>A | NCBI36 |
| NG_009092.1:g.17778C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2889C>A MANE Select | ENSP00000254854.4:p.Phe963Leu | |
| ENST00000254854.4:c.2889C>A | ENSP00000254854.4:p.Phe963Leu | |
| NM_000180.3:c.2889C>A | NP_000171.1:p.Phe963Leu | |
| XM_011523816.1:c.2889C>A | XP_011522118.1:p.Phe963Leu | |
| NM_000180.4:c.2889C>A MANE Select | NP_000171.1:p.Phe963Leu |