Linked Data
ClinVar Variation Id:
235554
ClinVar RCV Id:
RCV000224738
dbSNP Id:
rs34417963
ExAC:
10:94413508 G / C
gnomAD v2:
10-94413508-G-C
gnomAD v3:
10-92653751-G-C
gnomAD v4:
10-92653751-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92653751G>C , CM000672.2:g.92653751G>C | GRCh38 |
| NC_000010.10:g.94413508G>C , CM000672.1:g.94413508G>C | GRCh37 |
| NC_000010.9:g.94403488G>C | NCBI36 |
| NG_032580.1:g.65684G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260731.5:c.3126G>C MANE Select | ENSP00000260731.3:p.Leu1042Phe | |
| ENST00000676621.1:c.*1644G>C | ENSP00000503639.1:n.*1644G>C | |
| ENST00000676647.1:c.2919G>C | ENSP00000503394.1:p.Leu973Phe | |
| ENST00000676757.1:c.2919G>C | ENSP00000504289.1:p.Leu973Phe | |
| ENST00000677720.1:c.*1100G>C | ENSP00000504840.1:n.*1100G>C | |
| ENST00000260731.4:c.3126G>C | ENSP00000260731.3:p.Leu1042Phe | |
| NM_004523.3:c.3126G>C | NP_004514.2:p.Leu1042Phe | |
| NM_004523.4:c.3126G>C MANE Select | NP_004514.2:p.Leu1042Phe |