Linked Data
dbSNP Id:
rs1131498
ExAC:
1:169676486 A / G
gnomAD v2:
1-169676486-A-G
gnomAD v3:
1-169707345-A-G
gnomAD v4:
1-169707345-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169707345A>G , CM000663.2:g.169707345A>G | GRCh38 |
| NC_000001.10:g.169676486A>G , CM000663.1:g.169676486A>G | GRCh37 |
| NC_000001.9:g.167943110A>G | NCBI36 |
| NG_016132.1:g.9358T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236147.6:c.577T>C (SELL) MANE Select | ENSP00000236147.5:p.Phe193Leu | |
| ENST00000650983.1:c.616T>C (SELL) | ENSP00000498227.1:p.Phe206Leu | |
| ENST00000236147.4:c.616T>C (SELL) | ENSP00000236147.4:p.Phe206Leu | |
| ENST00000463108.5:n.777T>C (SELL) | ||
| ENST00000466340.1:n.589T>C (SELL) | ||
| ENST00000479657.5:n.329T>C (SELL) | ||
| ENST00000498289.5:n.851+23413A>G (FIRRM) | ||
| NM_000655.4:c.616T>C (SELL) | NP_000646.2:p.Phe206Leu | |
| NR_029467.1:n.545T>C (SELL) | ||
| NM_000655.5:c.577T>C (SELL) MANE Select | NP_000646.3:p.Phe193Leu | |
| NR_029467.2:n.546T>C (SELL) |