Linked Data
dbSNP Id:
rs761041809
ExAC:
3:81698142 A / G
gnomAD v2:
3-81698142-A-G
gnomAD v4:
3-81648991-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648991A>G , CM000665.2:g.81648991A>G | GRCh38 |
| NC_000003.11:g.81698142A>G , CM000665.1:g.81698142A>G | GRCh37 |
| NC_000003.10:g.81780832A>G | NCBI36 |
| NG_011810.1:g.117810T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.556T>C MANE Select | ENSP00000410833.2:p.Phe186Leu | |
| ENST00000429644.6:c.556T>C | ENSP00000410833.2:p.Phe186Leu | |
| ENST00000486920.1:n.552T>C | ||
| ENST00000489715.1:c.433T>C | ENSP00000419638.1:p.Phe145Leu | |
| ENST00000498468.1:n.84T>C | ||
| NM_000158.3:c.556T>C | NP_000149.3:p.Phe186Leu | |
| NM_000158.4:c.556T>C MANE Select | NP_000149.4:p.Phe186Leu |