Linked Data
dbSNP Id:
rs754021027
ExAC:
2:44126387 T / C
gnomAD v2:
2-44126387-T-C
gnomAD v4:
2-43899248-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43899248T>C , CM000664.2:g.43899248T>C | GRCh38 |
| NC_000002.11:g.44126387T>C , CM000664.1:g.44126387T>C | GRCh37 |
| NC_000002.10:g.43979891T>C | NCBI36 |
| NG_008247.1:g.101758A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.227A>G | ||
| ENST00000472420.6:n.875A>G | ||
| ENST00000483489.2:n.227A>G | ||
| ENST00000681993.1:n.1348A>G | ||
| ENST00000682303.1:c.*3582A>G | ENSP00000508325.1:n.*3582A>G | |
| ENST00000682308.1:c.3796A>G | ENSP00000507056.1:p.Lys1266Glu | |
| ENST00000682434.1:n.1347A>G | ||
| ENST00000682480.1:c.3814A>G | ENSP00000508344.1:p.Lys1272Glu | |
| ENST00000682546.1:c.3793A>G | ENSP00000508188.1:p.Lys1265Glu | |
| ENST00000682585.1:c.3796A>G | ENSP00000506885.1:p.Lys1266Glu | |
| ENST00000682595.1:n.4380A>G | ||
| ENST00000682607.1:c.2214A>G | ||
| ENST00000682612.1:c.648A>G | ||
| ENST00000682779.1:c.3787A>G | ENSP00000507947.1:p.Lys1263Glu | |
| ENST00000682845.1:n.2898A>G | ||
| ENST00000682885.1:c.3751A>G | ENSP00000508036.1:p.Lys1251Glu | |
| ENST00000682933.1:n.3870A>G | ||
| ENST00000683002.1:c.648A>G | ||
| ENST00000683072.1:n.4380A>G | ||
| ENST00000683080.1:n.1415A>G | ||
| ENST00000683125.1:c.3904A>G | ENSP00000507939.1:p.Lys1302Glu | |
| ENST00000683213.1:c.3799A>G | ENSP00000507751.1:p.Lys1267Glu | |
| ENST00000683220.1:c.3826A>G | ENSP00000507151.1:p.Lys1276Glu | |
| ENST00000683329.1:n.4599A>G | ||
| ENST00000683346.1:c.*3671A>G | ENSP00000507458.1:n.*3671A>G | |
| ENST00000683409.1:n.2403A>G | ||
| ENST00000683459.1:n.4383A>G | ||
| ENST00000683528.1:c.724A>G | ||
| ENST00000683590.1:c.3544A>G | ENSP00000506820.1:p.Lys1182Glu | |
| ENST00000683623.1:c.3703A>G | ENSP00000507702.1:p.Lys1235Glu | |
| ENST00000683645.1:n.4347A>G | ||
| ENST00000683796.1:c.*3668A>G | ENSP00000508221.1:n.*3668A>G | |
| ENST00000683802.1:n.6721A>G | ||
| ENST00000683833.1:c.3787A>G | ENSP00000506852.1:p.Lys1263Glu | |
| ENST00000683994.1:c.3796A>G | ENSP00000507181.1:p.Lys1266Glu | |
| ENST00000684290.1:c.*1332A>G | ENSP00000507243.1:n.*1332A>G | |
| ENST00000684306.1:c.*3709A>G | ENSP00000508384.1:n.*3709A>G | |
| ENST00000684341.1:n.3816A>G | ||
| ENST00000684383.1:c.*3434A>G | ENSP00000506863.1:n.*3434A>G | |
| ENST00000684418.1:n.4977A>G | ||
| ENST00000684433.1:n.180A>G | ||
| ENST00000684454.1:n.3146A>G | ||
| ENST00000684619.1:c.*3668A>G | ENSP00000508088.1:n.*3668A>G | |
| ENST00000684743.1:n.6541A>G | ||
| ENST00000260665.12:c.3796A>G MANE Select | ENSP00000260665.7:p.Lys1266Glu | |
| ENST00000260665.11:c.3796A>G | ENSP00000260665.7:p.Lys1266Glu | |
| ENST00000419884.5:c.37A>G | ENSP00000414207.1:p.Lys13Glu | |
| ENST00000463456.5:n.2839A>G | ||
| ENST00000472420.5:n.193A>G | ||
| ENST00000483489.1:n.270A>G | ||
| NM_133259.3:c.3796A>G | NP_573566.2:p.Lys1266Glu | |
| XM_006711915.2:c.3718A>G | XP_006711978.1:p.Lys1240Glu | |
| XM_011532473.1:c.3796A>G | XP_011530775.1:p.Lys1266Glu | |
| XM_011532474.1:c.3796A>G | XP_011530776.1:p.Lys1266Glu | |
| XM_017003117.1:c.3718A>G | XP_016858606.1:p.Lys1240Glu | |
| XR_002958896.1:n.3838A>G | ||
| NM_133259.4:c.3796A>G MANE Select | NP_573566.2:p.Lys1266Glu |