Linked Data
ClinVar Variation Id:
793310
ClinVar RCV Id:
RCV000976489
dbSNP Id:
rs1208167479
gnomAD v2:
2-44121700-G-A
gnomAD v3:
2-43894561-G-A
gnomAD v4:
2-43894561-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43894561G>A , CM000664.2:g.43894561G>A | GRCh38 |
| NC_000002.11:g.44121700G>A , CM000664.1:g.44121700G>A | GRCh37 |
| NC_000002.10:g.43975204G>A | NCBI36 |
| NG_008247.1:g.106445C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.599C>T | ||
| ENST00000681993.1:n.1521C>T | ||
| ENST00000682154.1:n.1403C>T | ||
| ENST00000682303.1:c.*3680C>T | ENSP00000508325.1:n.*3680C>T | |
| ENST00000682308.1:c.3894C>T | ENSP00000507056.1:p.Ser1298= | |
| ENST00000682434.1:n.3524C>T | ||
| ENST00000682480.1:c.3987C>T | ENSP00000508344.1:p.Ser1329= | |
| ENST00000682546.1:c.3966C>T | ENSP00000508188.1:p.Ser1322= | |
| ENST00000682585.1:c.*97C>T | ENSP00000506885.1:n.*97C>T | |
| ENST00000682607.1:c.2712C>T | ||
| ENST00000682612.1:c.752+2073C>T | ||
| ENST00000682696.1:c.69C>T | ENSP00000508411.1:p.Ser23= | |
| ENST00000682779.1:c.3960C>T | ENSP00000507947.1:p.Ser1320= | |
| ENST00000682885.1:c.3924C>T | ENSP00000508036.1:p.Ser1308= | |
| ENST00000682933.1:n.4169C>T | ||
| ENST00000683002.1:c.821C>T | ||
| ENST00000683072.1:n.4553C>T | ||
| ENST00000683080.1:n.1588C>T | ||
| ENST00000683096.1:n.2410C>T | ||
| ENST00000683125.1:c.4077C>T | ENSP00000507939.1:p.Ser1359= | |
| ENST00000683213.1:c.3972C>T | ENSP00000507751.1:p.Ser1324= | |
| ENST00000683220.1:c.3999C>T | ENSP00000507151.1:p.Ser1333= | |
| ENST00000683329.1:n.4772C>T | ||
| ENST00000683346.1:c.*3844C>T | ENSP00000507458.1:n.*3844C>T | |
| ENST00000683409.1:n.2501C>T | ||
| ENST00000683459.1:n.4556C>T | ||
| ENST00000683590.1:c.3642C>T | ENSP00000506820.1:p.Ser1214= | |
| ENST00000683623.1:c.3876C>T | ENSP00000507702.1:p.Ser1292= | |
| ENST00000683796.1:c.*3766C>T | ENSP00000508221.1:n.*3766C>T | |
| ENST00000683833.1:c.3885C>T | ENSP00000506852.1:p.Ser1295= | |
| ENST00000683994.1:c.*82C>T | ENSP00000507181.1:n.*82C>T | |
| ENST00000684290.1:c.*1430C>T | ENSP00000507243.1:n.*1430C>T | |
| ENST00000684306.1:c.*3882C>T | ENSP00000508384.1:n.*3882C>T | |
| ENST00000684383.1:c.*3607C>T | ENSP00000506863.1:n.*3607C>T | |
| ENST00000684418.1:n.5150C>T | ||
| ENST00000684433.1:n.353C>T | ||
| ENST00000684454.1:n.7833C>T | ||
| ENST00000684619.1:c.*3841C>T | ENSP00000508088.1:n.*3841C>T | |
| ENST00000684743.1:n.6714C>T | ||
| ENST00000260665.12:c.3969C>T MANE Select | ENSP00000260665.7:p.Ser1323= | |
| ENST00000260665.11:c.3969C>T | ENSP00000260665.7:p.Ser1323= | |
| ENST00000419884.5:c.210C>T | ENSP00000414207.1:p.Ser70= | |
| ENST00000463456.5:n.3012C>T | ||
| NM_133259.3:c.3969C>T | NP_573566.2:p.Ser1323= | |
| XM_006711915.2:c.3891C>T | XP_006711978.1:p.Ser1297= | |
| XM_011532473.1:c.3894C>T | XP_011530775.1:p.Ser1298= | |
| XM_011532474.1:c.3969C>T | XP_011530776.1:p.Ser1323= | |
| XM_017003117.1:c.3816C>T | XP_016858606.1:p.Ser1272= | |
| XR_002958896.1:n.4011C>T | ||
| NM_133259.4:c.3969C>T MANE Select | NP_573566.2:p.Ser1323= |