Linked Data
dbSNP Id:
rs1306858938
gnomAD v2:
2-44145173-G-T
gnomAD v3:
2-43918034-G-T
gnomAD v4:
2-43918034-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918034G>T , CM000664.2:g.43918034G>T | GRCh38 |
| NC_000002.11:g.44145173G>T , CM000664.1:g.44145173G>T | GRCh37 |
| NC_000002.10:g.43998677G>T | NCBI36 |
| NG_008247.1:g.82972C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.691C>A | ||
| ENST00000682295.1:c.303+222C>A | ENSP00000507499.1:n.303+222C>A | |
| ENST00000682303.1:c.*2925C>A | ENSP00000508325.1:n.*2925C>A | |
| ENST00000682308.1:c.3139C>A | ENSP00000507056.1:p.Gln1047Lys | |
| ENST00000682480.1:c.3157C>A | ENSP00000508344.1:p.Gln1053Lys | |
| ENST00000682546.1:c.3136C>A | ENSP00000508188.1:p.Gln1046Lys | |
| ENST00000682585.1:c.3139C>A | ENSP00000506885.1:p.Gln1047Lys | |
| ENST00000682595.1:n.3723C>A | ||
| ENST00000682607.1:c.1557C>A | ||
| ENST00000682779.1:c.3130C>A | ENSP00000507947.1:p.Gln1044Lys | |
| ENST00000682845.1:n.2241C>A | ||
| ENST00000682885.1:c.3094C>A | ENSP00000508036.1:p.Gln1032Lys | |
| ENST00000682933.1:n.3213C>A | ||
| ENST00000683072.1:n.3723C>A | ||
| ENST00000683080.1:n.758C>A | ||
| ENST00000683125.1:c.3247C>A | ENSP00000507939.1:p.Gln1083Lys | |
| ENST00000683213.1:c.3142C>A | ENSP00000507751.1:p.Gln1048Lys | |
| ENST00000683220.1:c.3169C>A | ENSP00000507151.1:p.Gln1057Lys | |
| ENST00000683329.1:n.3942C>A | ||
| ENST00000683346.1:c.*3014C>A | ENSP00000507458.1:n.*3014C>A | |
| ENST00000683409.1:n.1746C>A | ||
| ENST00000683459.1:n.3726C>A | ||
| ENST00000683590.1:c.2897-5476C>A | ENSP00000506820.1:n.2897-5476C>A | |
| ENST00000683623.1:c.3046C>A | ENSP00000507702.1:p.Gln1016Lys | |
| ENST00000683645.1:n.3690C>A | ||
| ENST00000683796.1:c.*3011C>A | ENSP00000508221.1:n.*3011C>A | |
| ENST00000683802.1:n.6064C>A | ||
| ENST00000683833.1:c.3130C>A | ENSP00000506852.1:p.Gln1044Lys | |
| ENST00000683994.1:c.3139C>A | ENSP00000507181.1:p.Gln1047Lys | |
| ENST00000684290.1:c.*675C>A | ENSP00000507243.1:n.*675C>A | |
| ENST00000684306.1:c.*3052C>A | ENSP00000508384.1:n.*3052C>A | |
| ENST00000684341.1:n.3159C>A | ||
| ENST00000684383.1:c.*2777C>A | ENSP00000506863.1:n.*2777C>A | |
| ENST00000684619.1:c.*3011C>A | ENSP00000508088.1:n.*3011C>A | |
| ENST00000684705.1:n.260C>A | ||
| ENST00000684743.1:n.4170C>A | ||
| ENST00000260665.12:c.3139C>A MANE Select | ENSP00000260665.7:p.Gln1047Lys | |
| ENST00000260665.11:c.3139C>A | ENSP00000260665.7:p.Gln1047Lys | |
| NM_133259.3:c.3139C>A | NP_573566.2:p.Gln1047Lys | |
| XM_006711915.2:c.3061C>A | XP_006711978.1:p.Gln1021Lys | |
| XM_006711916.2:c.3139C>A | XP_006711979.1:p.Gln1047Lys | |
| XM_011532473.1:c.3139C>A | XP_011530775.1:p.Gln1047Lys | |
| XM_011532474.1:c.3139C>A | XP_011530776.1:p.Gln1047Lys | |
| XM_006711916.3:c.3139C>A | XP_006711979.1:p.Gln1047Lys | |
| XM_017003117.1:c.3061C>A | XP_016858606.1:p.Gln1021Lys | |
| XR_002958896.1:n.3181C>A | ||
| NM_133259.4:c.3139C>A MANE Select | NP_573566.2:p.Gln1047Lys |