Linked Data
dbSNP Id:
rs562563404
ExAC:
2:44145207 G / T
gnomAD v2:
2-44145207-G-T
gnomAD v3:
2-43918068-G-T
gnomAD v4:
2-43918068-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918068G>T , CM000664.2:g.43918068G>T | GRCh38 |
| NC_000002.11:g.44145207G>T , CM000664.1:g.44145207G>T | GRCh37 |
| NC_000002.10:g.43998711G>T | NCBI36 |
| NG_008247.1:g.82938C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.657C>A | ||
| ENST00000682295.1:c.303+188C>A | ENSP00000507499.1:n.303+188C>A | |
| ENST00000682303.1:c.*2891C>A | ENSP00000508325.1:n.*2891C>A | |
| ENST00000682308.1:c.3105C>A | ENSP00000507056.1:p.Phe1035Leu | |
| ENST00000682480.1:c.3123C>A | ENSP00000508344.1:p.Phe1041Leu | |
| ENST00000682546.1:c.3102C>A | ENSP00000508188.1:p.Phe1034Leu | |
| ENST00000682585.1:c.3105C>A | ENSP00000506885.1:p.Phe1035Leu | |
| ENST00000682595.1:n.3689C>A | ||
| ENST00000682607.1:c.1523C>A | ||
| ENST00000682779.1:c.3096C>A | ENSP00000507947.1:p.Phe1032Leu | |
| ENST00000682845.1:n.2207C>A | ||
| ENST00000682885.1:c.3060C>A | ENSP00000508036.1:p.Phe1020Leu | |
| ENST00000682933.1:n.3179C>A | ||
| ENST00000683072.1:n.3689C>A | ||
| ENST00000683080.1:n.724C>A | ||
| ENST00000683125.1:c.3213C>A | ENSP00000507939.1:p.Phe1071Leu | |
| ENST00000683213.1:c.3108C>A | ENSP00000507751.1:p.Phe1036Leu | |
| ENST00000683220.1:c.3135C>A | ENSP00000507151.1:p.Phe1045Leu | |
| ENST00000683329.1:n.3908C>A | ||
| ENST00000683346.1:c.*2980C>A | ENSP00000507458.1:n.*2980C>A | |
| ENST00000683409.1:n.1712C>A | ||
| ENST00000683459.1:n.3692C>A | ||
| ENST00000683590.1:c.2897-5510C>A | ENSP00000506820.1:n.2897-5510C>A | |
| ENST00000683623.1:c.3012C>A | ENSP00000507702.1:p.Phe1004Leu | |
| ENST00000683645.1:n.3656C>A | ||
| ENST00000683796.1:c.*2977C>A | ENSP00000508221.1:n.*2977C>A | |
| ENST00000683802.1:n.6030C>A | ||
| ENST00000683833.1:c.3096C>A | ENSP00000506852.1:p.Phe1032Leu | |
| ENST00000683994.1:c.3105C>A | ENSP00000507181.1:p.Phe1035Leu | |
| ENST00000684290.1:c.*641C>A | ENSP00000507243.1:n.*641C>A | |
| ENST00000684306.1:c.*3018C>A | ENSP00000508384.1:n.*3018C>A | |
| ENST00000684341.1:n.3125C>A | ||
| ENST00000684383.1:c.*2743C>A | ENSP00000506863.1:n.*2743C>A | |
| ENST00000684619.1:c.*2977C>A | ENSP00000508088.1:n.*2977C>A | |
| ENST00000684705.1:n.226C>A | ||
| ENST00000684743.1:n.4136C>A | ||
| ENST00000260665.12:c.3105C>A MANE Select | ENSP00000260665.7:p.Phe1035Leu | |
| ENST00000260665.11:c.3105C>A | ENSP00000260665.7:p.Phe1035Leu | |
| NM_133259.3:c.3105C>A | NP_573566.2:p.Phe1035Leu | |
| XM_006711915.2:c.3027C>A | XP_006711978.1:p.Phe1009Leu | |
| XM_006711916.2:c.3105C>A | XP_006711979.1:p.Phe1035Leu | |
| XM_011532473.1:c.3105C>A | XP_011530775.1:p.Phe1035Leu | |
| XM_011532474.1:c.3105C>A | XP_011530776.1:p.Phe1035Leu | |
| XM_006711916.3:c.3105C>A | XP_006711979.1:p.Phe1035Leu | |
| XM_017003117.1:c.3027C>A | XP_016858606.1:p.Phe1009Leu | |
| XR_002958896.1:n.3147C>A | ||
| NM_133259.4:c.3105C>A MANE Select | NP_573566.2:p.Phe1035Leu |