Linked Data
dbSNP Id:
rs112467847
ExAC:
8:99169944 G / C
gnomAD v2:
8-99169944-G-C
gnomAD v3:
8-98157716-G-C
gnomAD v4:
8-98157716-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.98157716G>C , CM000670.2:g.98157716G>C | GRCh38 |
| NC_000008.10:g.99169944G>C , CM000670.1:g.99169944G>C | GRCh37 |
| NC_000008.9:g.99239120G>C | NCBI36 |
| NG_052869.1:g.45424G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401707.7:c.2520G>C MANE Select | ENSP00000385787.2:p.Leu840Phe | |
| ENST00000349693.3:c.2520G>C | ENSP00000339529.3:p.Leu840Phe | |
| ENST00000401707.6:c.2520G>C | ENSP00000385787.2:p.Leu840Phe | |
| NM_001145860.1:c.2520G>C | NP_001139332.1:p.Leu840Phe | |
| NM_001145861.1:c.2520G>C | NP_001139333.1:p.Leu840Phe | |
| NM_015029.2:c.2520G>C | NP_055844.2:p.Leu840Phe | |
| NM_001145860.2:c.2520G>C MANE Select | NP_001139332.1:p.Leu840Phe | |
| NM_001145861.2:c.2520G>C | NP_001139333.1:p.Leu840Phe | |
| NM_015029.3:c.2520G>C | NP_055844.2:p.Leu840Phe |