Linked Data
gnomAD v4:
22-43946305-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946305T>C , CM000684.2:g.43946305T>C | GRCh38 |
| NC_000022.10:g.44342185T>C , CM000684.1:g.44342185T>C | GRCh37 |
| NC_000022.9:g.42673518T>C | NCBI36 |
| NG_008631.1:g.27567T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.1369T>C MANE Select | ENSP00000216180.3:p.Phe457Leu | |
| ENST00000216180.7:c.1369T>C | ENSP00000216180.3:p.Phe457Leu | |
| ENST00000406117.6:c.*849+1510T>C | ENSP00000384668.2:n.*849+1510T>C | |
| ENST00000423180.2:c.1357T>C | ENSP00000397987.2:p.Phe453Leu | |
| NM_025225.2:c.1369T>C | NP_079501.2:p.Phe457Leu | |
| NM_025225.3:c.1369T>C MANE Select | NP_079501.2:p.Phe457Leu |