Linked Data
dbSNP Id:
rs749741547
ExAC:
4:79786855 C / A
gnomAD v2:
4-79786855-C-A
gnomAD v3:
4-78865701-C-A
gnomAD v4:
4-78865701-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78865701C>A , CM000666.2:g.78865701C>A | GRCh38 |
| NC_000004.11:g.79786855C>A , CM000666.1:g.79786855C>A | GRCh37 |
| NC_000004.10:g.80005879C>A | NCBI36 |
| NG_047162.1:g.94324C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.1212C>A MANE Select | ENSP00000424668.2:p.Phe404Leu | |
| ENST00000335016.9:c.1212C>A | ENSP00000334836.5:p.Phe404Leu | |
| ENST00000389010.7:c.*188C>A | ENSP00000373662.3:n.*188C>A | |
| ENST00000502613.1:c.289C>A | ||
| ENST00000502871.5:c.1212C>A | ENSP00000421768.1:p.Phe404Leu | |
| ENST00000505725.1:n.494C>A | ||
| ENST00000628286.1:c.*188C>A | ENSP00000487317.1:n.*188C>A | |
| NM_017593.3:c.1212C>A | NP_060063.2:p.Phe404Leu | |
| NM_198892.1:c.1212C>A | NP_942595.1:p.Phe404Leu | |
| XM_005263117.1:c.1212C>A | XP_005263174.1:p.Phe404Leu | |
| XM_011532101.1:c.972C>A | XP_011530403.1:p.Phe324Leu | |
| XM_011532102.1:c.1212C>A | XP_011530404.1:p.Phe404Leu | |
| XM_017008381.1:c.972C>A | XP_016863870.1:p.Phe324Leu | |
| XM_017008382.1:c.324C>A | XP_016863871.1:p.Phe108Leu | |
| NM_017593.4:c.1212C>A | NP_060063.2:p.Phe404Leu | |
| NM_017593.5:c.1212C>A | NP_060063.2:p.Phe404Leu | |
| NM_198892.2:c.1212C>A MANE Select | NP_942595.1:p.Phe404Leu |