Linked Data
dbSNP Id:
rs757467011
ExAC:
2:44132858 T / A
gnomAD v2:
2-44132858-T-A
gnomAD v4:
2-43905719-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43905719T>A , CM000664.2:g.43905719T>A | GRCh38 |
| NC_000002.11:g.44132858T>A , CM000664.1:g.44132858T>A | GRCh37 |
| NC_000002.10:g.43986362T>A | NCBI36 |
| NG_008247.1:g.95287A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472420.6:n.416A>T | ||
| ENST00000681993.1:n.889A>T | ||
| ENST00000682295.1:c.492A>T | ENSP00000507499.1:n.492A>T | |
| ENST00000682303.1:c.*3123A>T | ENSP00000508325.1:n.*3123A>T | |
| ENST00000682308.1:c.3337A>T | ENSP00000507056.1:p.Thr1113Ser | |
| ENST00000682480.1:c.3355A>T | ENSP00000508344.1:p.Thr1119Ser | |
| ENST00000682546.1:c.3334A>T | ENSP00000508188.1:p.Thr1112Ser | |
| ENST00000682585.1:c.3337A>T | ENSP00000506885.1:p.Thr1113Ser | |
| ENST00000682595.1:n.3921A>T | ||
| ENST00000682607.1:c.1755A>T | ||
| ENST00000682612.1:c.189A>T | ||
| ENST00000682779.1:c.3328A>T | ENSP00000507947.1:p.Thr1110Ser | |
| ENST00000682845.1:n.2439A>T | ||
| ENST00000682885.1:c.3292A>T | ENSP00000508036.1:p.Thr1098Ser | |
| ENST00000682933.1:n.3411A>T | ||
| ENST00000683002.1:c.189A>T | ||
| ENST00000683072.1:n.3921A>T | ||
| ENST00000683080.1:n.956A>T | ||
| ENST00000683125.1:c.3445A>T | ENSP00000507939.1:p.Thr1149Ser | |
| ENST00000683213.1:c.3340A>T | ENSP00000507751.1:p.Thr1114Ser | |
| ENST00000683220.1:c.3367A>T | ENSP00000507151.1:p.Thr1123Ser | |
| ENST00000683329.1:n.4140A>T | ||
| ENST00000683346.1:c.*3212A>T | ENSP00000507458.1:n.*3212A>T | |
| ENST00000683409.1:n.1944A>T | ||
| ENST00000683459.1:n.3924A>T | ||
| ENST00000683528.1:c.189A>T | ||
| ENST00000683590.1:c.3085A>T | ENSP00000506820.1:p.Thr1029Ser | |
| ENST00000683623.1:c.3244A>T | ENSP00000507702.1:p.Thr1082Ser | |
| ENST00000683645.1:n.3888A>T | ||
| ENST00000683796.1:c.*3209A>T | ENSP00000508221.1:n.*3209A>T | |
| ENST00000683802.1:n.6262A>T | ||
| ENST00000683833.1:c.3328A>T | ENSP00000506852.1:p.Thr1110Ser | |
| ENST00000683994.1:c.3337A>T | ENSP00000507181.1:p.Thr1113Ser | |
| ENST00000684290.1:c.*873A>T | ENSP00000507243.1:n.*873A>T | |
| ENST00000684306.1:c.*3250A>T | ENSP00000508384.1:n.*3250A>T | |
| ENST00000684341.1:n.3357A>T | ||
| ENST00000684383.1:c.*2975A>T | ENSP00000506863.1:n.*2975A>T | |
| ENST00000684418.1:n.4518A>T | ||
| ENST00000684454.1:n.2687A>T | ||
| ENST00000684619.1:c.*3209A>T | ENSP00000508088.1:n.*3209A>T | |
| ENST00000684743.1:n.4368A>T | ||
| ENST00000260665.12:c.3337A>T MANE Select | ENSP00000260665.7:p.Thr1113Ser | |
| ENST00000260665.11:c.3337A>T | ENSP00000260665.7:p.Thr1113Ser | |
| NM_133259.3:c.3337A>T | NP_573566.2:p.Thr1113Ser | |
| XM_006711915.2:c.3259A>T | XP_006711978.1:p.Thr1087Ser | |
| XM_011532473.1:c.3337A>T | XP_011530775.1:p.Thr1113Ser | |
| XM_011532474.1:c.3337A>T | XP_011530776.1:p.Thr1113Ser | |
| XM_017003117.1:c.3259A>T | XP_016858606.1:p.Thr1087Ser | |
| XR_002958896.1:n.3379A>T | ||
| NM_133259.4:c.3337A>T MANE Select | NP_573566.2:p.Thr1113Ser |