Linked Data
dbSNP Id:
rs1331004488
gnomAD v2:
17-7126040-C-A
gnomAD v3:
17-7222721-C-A
gnomAD v4:
17-7222721-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222721C>A , CM000679.2:g.7222721C>A | GRCh38 |
| NC_000017.10:g.7126040C>A , CM000679.1:g.7126040C>A | GRCh37 |
| NC_000017.9:g.7066764C>A | NCBI36 |
| NG_007975.1:g.7888C>A | |
| NG_008391.2:g.2330G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.933C>A MANE Select | ENSP00000349297.5:p.Phe311Leu | |
| ENST00000322910.9:c.*888C>A | ENSP00000325395.5:n.*888C>A | |
| ENST00000350303.9:c.867C>A | ENSP00000344152.5:p.Phe289Leu | |
| ENST00000356839.9:c.933C>A | ENSP00000349297.5:p.Phe311Leu | |
| ENST00000543245.6:c.1002C>A | ENSP00000438689.2:p.Phe334Leu | |
| ENST00000578824.5:n.82C>A | ||
| ENST00000581378.5:c.651C>A | ||
| ENST00000582379.1:n.317C>A | ||
| NM_000018.3:c.933C>A | NP_000009.1:p.Phe311Leu | |
| NM_001033859.2:c.867C>A | NP_001029031.1:p.Phe289Leu | |
| NM_001270447.1:c.1002C>A | NP_001257376.1:p.Phe334Leu | |
| NM_001270448.1:c.705C>A | NP_001257377.1:p.Phe235Leu | |
| XM_006721516.2:c.933C>A | XP_006721579.2:p.Phe311Leu | |
| XM_011523829.1:c.933C>A | XP_011522131.1:p.Phe311Leu | |
| XM_011523830.1:c.933C>A | XP_011522132.1:p.Phe311Leu | |
| XR_934021.1:n.1040C>A | ||
| XR_934022.1:n.1040C>A | ||
| XR_934023.1:n.1040C>A | ||
| XM_006721516.3:c.933C>A | XP_006721579.2:p.Phe311Leu | |
| XM_011523829.2:c.933C>A | XP_011522131.1:p.Phe311Leu | |
| XM_011523830.2:c.933C>A | XP_011522132.1:p.Phe311Leu | |
| XM_024450741.1:c.933C>A | XP_024306509.1:p.Phe311Leu | |
| XR_934021.2:n.992C>A | ||
| XR_934022.2:n.992C>A | ||
| XR_934023.2:n.992C>A | ||
| NM_000018.4:c.933C>A MANE Select | NP_000009.1:p.Phe311Leu | |
| NM_001033859.3:c.867C>A | NP_001029031.1:p.Phe289Leu | |
| NM_001270447.2:c.1002C>A | NP_001257376.1:p.Phe334Leu | |
| NM_001270448.2:c.705C>A | NP_001257377.1:p.Phe235Leu |