Linked Data
dbSNP Id:
rs749987221
ExAC:
6:32810855 G / C
gnomAD v2:
6-32810855-G-C
gnomAD v4:
6-32843078-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843078G>C , CM000668.2:g.32843078G>C | GRCh38 |
| NC_000006.11:g.32810855G>C , CM000668.1:g.32810855G>C | GRCh37 |
| NC_000006.10:g.32918833G>C | NCBI36 |
| NG_009793.3:g.693C>G | |
| NG_028165.1:g.6858C>G | |
| NG_009793.4:g.693C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.180C>G | ||
| ENST00000697612.1:n.858C>G | ||
| ENST00000374881.3:c.147C>G | ENSP00000364015.2:p.Phe49Leu | |
| ENST00000374882.8:c.159C>G MANE Select | ENSP00000364016.4:p.Phe53Leu | |
| ENST00000650411.1:n.1480C>G | ||
| ENST00000650793.1:n.180C>G | ||
| ENST00000374881.2:c.147C>G | ENSP00000364015.2:p.Phe49Leu | |
| ENST00000374882.7:c.159C>G | ENSP00000364016.3:p.Phe53Leu | |
| ENST00000395339.7:c.159C>G | ENSP00000378748.3:p.Phe53Leu | |
| ENST00000484003.1:n.385C>G | ||
| NM_004159.4:c.147C>G | NP_004150.1:p.Phe49Leu | |
| NM_148919.3:c.159C>G | NP_683720.2:p.Phe53Leu | |
| NM_148919.4:c.159C>G MANE Select | NP_683720.2:p.Phe53Leu | |
| NM_004159.5:c.147C>G | NP_004150.1:p.Phe49Leu |