Linked Data
ClinVar Variation Id:
908127
ClinVar RCV Id:
RCV001158443
dbSNP Id:
rs1472138354
gnomAD v4:
7-143332726-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143332726G>C , CM000669.2:g.143332726G>C | GRCh38 |
| NC_000007.13:g.143029819G>C , CM000669.1:g.143029819G>C | GRCh37 |
| NC_000007.12:g.142739941G>C | NCBI36 |
| NG_009815.1:g.21601G>C | |
| NG_009815.2:g.21601G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1254G>C | ENSP00000498052.2:p.Leu418Phe | |
| ENST00000343257.7:c.1254G>C MANE Select | ENSP00000339867.2:p.Leu418Phe | |
| ENST00000432192.6:c.1078G>C | ||
| ENST00000343257.6:c.1254G>C | ENSP00000339867.2:p.Leu418Phe | |
| NM_000083.2:c.1254G>C | NP_000074.2:p.Leu418Phe | |
| NR_046453.1:n.1341+223G>C | ||
| XM_011515781.1:c.1278G>C | XP_011514083.1:p.Leu426Phe | |
| XM_011515782.1:c.-1G>C | XP_011514084.1:n.-1G>C | |
| XM_011515782.2:c.-1G>C | XP_011514084.1:n.-1G>C | |
| XM_017011739.1:c.828G>C | XP_016867228.1:p.Leu276Phe | |
| XM_017011740.1:c.804G>C | XP_016867229.1:p.Leu268Phe | |
| NM_000083.3:c.1254G>C MANE Select | NP_000074.3:p.Leu418Phe | |
| NR_046453.2:n.1356+223G>C |