Linked Data
ClinVar Variation Id:
336149
dbSNP Id:
rs142097048
ExAC:
2:44126728 C / T
gnomAD v2:
2-44126728-C-T
gnomAD v3:
2-43899589-C-T
gnomAD v4:
2-43899589-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43899589C>T , CM000664.2:g.43899589C>T | GRCh38 |
| NC_000002.11:g.44126728C>T , CM000664.1:g.44126728C>T | GRCh37 |
| NC_000002.10:g.43980232C>T | NCBI36 |
| NG_008247.1:g.101417G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.17G>A | ||
| ENST00000472420.6:n.665G>A | ||
| ENST00000483489.2:n.17G>A | ||
| ENST00000681993.1:n.1138G>A | ||
| ENST00000682303.1:c.*3372G>A | ENSP00000508325.1:n.*3372G>A | |
| ENST00000682308.1:c.3586G>A | ENSP00000507056.1:p.Ala1196Thr | |
| ENST00000682434.1:n.1137G>A | ||
| ENST00000682480.1:c.3604G>A | ENSP00000508344.1:p.Ala1202Thr | |
| ENST00000682546.1:c.3583G>A | ENSP00000508188.1:p.Ala1195Thr | |
| ENST00000682585.1:c.3586G>A | ENSP00000506885.1:p.Ala1196Thr | |
| ENST00000682595.1:n.4170G>A | ||
| ENST00000682607.1:c.2004G>A | ||
| ENST00000682612.1:c.438G>A | ||
| ENST00000682779.1:c.3577G>A | ENSP00000507947.1:p.Ala1193Thr | |
| ENST00000682845.1:n.2688G>A | ||
| ENST00000682885.1:c.3541G>A | ENSP00000508036.1:p.Ala1181Thr | |
| ENST00000682933.1:n.3660G>A | ||
| ENST00000683002.1:c.438G>A | ||
| ENST00000683072.1:n.4170G>A | ||
| ENST00000683080.1:n.1205G>A | ||
| ENST00000683125.1:c.3694G>A | ENSP00000507939.1:p.Ala1232Thr | |
| ENST00000683213.1:c.3589G>A | ENSP00000507751.1:p.Ala1197Thr | |
| ENST00000683220.1:c.3616G>A | ENSP00000507151.1:p.Ala1206Thr | |
| ENST00000683329.1:n.4389G>A | ||
| ENST00000683346.1:c.*3461G>A | ENSP00000507458.1:n.*3461G>A | |
| ENST00000683409.1:n.2193G>A | ||
| ENST00000683459.1:n.4173G>A | ||
| ENST00000683528.1:c.514G>A | ||
| ENST00000683590.1:c.3334G>A | ENSP00000506820.1:p.Ala1112Thr | |
| ENST00000683623.1:c.3493G>A | ENSP00000507702.1:p.Ala1165Thr | |
| ENST00000683645.1:n.4137G>A | ||
| ENST00000683796.1:c.*3458G>A | ENSP00000508221.1:n.*3458G>A | |
| ENST00000683802.1:n.6511G>A | ||
| ENST00000683833.1:c.3577G>A | ENSP00000506852.1:p.Ala1193Thr | |
| ENST00000683994.1:c.3586G>A | ENSP00000507181.1:p.Ala1196Thr | |
| ENST00000684290.1:c.*1122G>A | ENSP00000507243.1:n.*1122G>A | |
| ENST00000684306.1:c.*3499G>A | ENSP00000508384.1:n.*3499G>A | |
| ENST00000684341.1:n.3606G>A | ||
| ENST00000684383.1:c.*3224G>A | ENSP00000506863.1:n.*3224G>A | |
| ENST00000684418.1:n.4767G>A | ||
| ENST00000684454.1:n.2936G>A | ||
| ENST00000684619.1:c.*3458G>A | ENSP00000508088.1:n.*3458G>A | |
| ENST00000684743.1:n.6331G>A | ||
| ENST00000260665.12:c.3586G>A MANE Select | ENSP00000260665.7:p.Ala1196Thr | |
| ENST00000260665.11:c.3586G>A | ENSP00000260665.7:p.Ala1196Thr | |
| ENST00000463456.5:n.2629G>A | ||
| ENST00000483489.1:n.60G>A | ||
| NM_133259.3:c.3586G>A | NP_573566.2:p.Ala1196Thr | |
| XM_006711915.2:c.3508G>A | XP_006711978.1:p.Ala1170Thr | |
| XM_011532473.1:c.3586G>A | XP_011530775.1:p.Ala1196Thr | |
| XM_011532474.1:c.3586G>A | XP_011530776.1:p.Ala1196Thr | |
| XM_017003117.1:c.3508G>A | XP_016858606.1:p.Ala1170Thr | |
| XR_002958896.1:n.3628G>A | ||
| NM_133259.4:c.3586G>A MANE Select | NP_573566.2:p.Ala1196Thr |