Linked Data
ClinVar Variation Id:
2188930
ClinVar RCV Id:
RCV002606972
dbSNP Id:
rs538903199
ExAC:
4:74283973 T / C
gnomAD v2:
4-74283973-T-C
gnomAD v3:
4-73418256-T-C
gnomAD v4:
4-73418256-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73418256T>C , CM000666.2:g.73418256T>C | GRCh38 |
| NC_000004.11:g.74283973T>C , CM000666.1:g.74283973T>C | GRCh37 |
| NC_000004.10:g.74502837T>C | NCBI36 |
| NG_009291.1:g.19002T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1597T>C MANE Select | ENSP00000295897.4:p.Phe533Leu | |
| ENST00000295897.8:c.1597T>C | ENSP00000295897.4:p.Phe533Leu | |
| ENST00000401494.7:c.1252T>C | ENSP00000384695.3:p.Phe418Leu | |
| ENST00000415165.6:c.1021T>C | ENSP00000401820.2:p.Phe341Leu | |
| ENST00000476441.6:c.*876T>C | ENSP00000423727.1:n.*876T>C | |
| ENST00000486939.1:n.251T>C | ||
| ENST00000503124.5:c.1147T>C | ENSP00000421027.1:p.Phe383Leu | |
| ENST00000505649.5:n.1144T>C | ||
| ENST00000509063.5:c.1597T>C | ENSP00000422784.1:p.Phe533Leu | |
| ENST00000511370.1:c.1130T>C | ||
| ENST00000621085.4:c.958T>C | ENSP00000483421.1:p.Phe320Leu | |
| ENST00000621628.4:c.958T>C | ENSP00000480485.1:p.Phe320Leu | |
| NM_000477.5:c.1597T>C | NP_000468.1:p.Phe533Leu | |
| NM_000477.6:c.1597T>C | NP_000468.1:p.Phe533Leu | |
| NM_000477.7:c.1597T>C MANE Select | NP_000468.1:p.Phe533Leu |