Linked Data
dbSNP Id:
rs2232618
ExAC:
20:37001761 T / C
gnomAD v2:
20-37001761-T-C
gnomAD v3:
20-38373117-T-C
gnomAD v4:
20-38373117-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38373117T>C , CM000682.2:g.38373117T>C | GRCh38 |
| NC_000020.10:g.37001761T>C , CM000682.1:g.37001761T>C | GRCh37 |
| NC_000020.9:g.36435175T>C | NCBI36 |
| NG_034239.1:g.31707T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217407.3:c.1306T>C MANE Select | ENSP00000217407.2:p.Phe436Leu | |
| ENST00000217407.2:c.1306T>C | ENSP00000217407.2:p.Phe436Leu | |
| NM_004139.4:c.1306T>C | NP_004130.2:p.Phe436Leu | |
| NM_004139.5:c.1306T>C MANE Select | NP_004130.2:p.Phe436Leu |