Linked Data
dbSNP Id:
rs759104204
ExAC:
4:4864571 T / C
gnomAD v2:
4-4864571-T-C
gnomAD v4:
4-4862844-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862844T>C , CM000666.2:g.4862844T>C | GRCh38 |
| NC_000004.11:g.4864571T>C , CM000666.1:g.4864571T>C | GRCh37 |
| NC_000004.10:g.4915472T>C | NCBI36 |
| NG_008121.1:g.8180T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.613T>C MANE Select | ENSP00000372170.4:p.Phe205Leu | |
| ENST00000382723.4:c.613T>C | ENSP00000372170.4:p.Phe205Leu | |
| ENST00000468421.1:n.325T>C | ||
| NM_002448.3:c.613T>C MANE Select | NP_002439.2:p.Phe205Leu |