Linked Data
dbSNP Id:
rs1183426387
gnomAD v2:
2-44126462-C-T
gnomAD v3:
2-43899323-C-T
gnomAD v4:
2-43899323-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43899323C>T , CM000664.2:g.43899323C>T | GRCh38 |
| NC_000002.11:g.44126462C>T , CM000664.1:g.44126462C>T | GRCh37 |
| NC_000002.10:g.43979966C>T | NCBI36 |
| NG_008247.1:g.101683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.152G>A | ||
| ENST00000472420.6:n.800G>A | ||
| ENST00000483489.2:n.152G>A | ||
| ENST00000681993.1:n.1273G>A | ||
| ENST00000682303.1:c.*3507G>A | ENSP00000508325.1:n.*3507G>A | |
| ENST00000682308.1:c.3721G>A | ENSP00000507056.1:p.Ala1241Thr | |
| ENST00000682434.1:n.1272G>A | ||
| ENST00000682480.1:c.3739G>A | ENSP00000508344.1:p.Ala1247Thr | |
| ENST00000682546.1:c.3718G>A | ENSP00000508188.1:p.Ala1240Thr | |
| ENST00000682585.1:c.3721G>A | ENSP00000506885.1:p.Ala1241Thr | |
| ENST00000682595.1:n.4305G>A | ||
| ENST00000682607.1:c.2139G>A | ||
| ENST00000682612.1:c.573G>A | ||
| ENST00000682779.1:c.3712G>A | ENSP00000507947.1:p.Ala1238Thr | |
| ENST00000682845.1:n.2823G>A | ||
| ENST00000682885.1:c.3676G>A | ENSP00000508036.1:p.Ala1226Thr | |
| ENST00000682933.1:n.3795G>A | ||
| ENST00000683002.1:c.573G>A | ||
| ENST00000683072.1:n.4305G>A | ||
| ENST00000683080.1:n.1340G>A | ||
| ENST00000683125.1:c.3829G>A | ENSP00000507939.1:p.Ala1277Thr | |
| ENST00000683213.1:c.3724G>A | ENSP00000507751.1:p.Ala1242Thr | |
| ENST00000683220.1:c.3751G>A | ENSP00000507151.1:p.Ala1251Thr | |
| ENST00000683329.1:n.4524G>A | ||
| ENST00000683346.1:c.*3596G>A | ENSP00000507458.1:n.*3596G>A | |
| ENST00000683409.1:n.2328G>A | ||
| ENST00000683459.1:n.4308G>A | ||
| ENST00000683528.1:c.649G>A | ||
| ENST00000683590.1:c.3469G>A | ENSP00000506820.1:p.Ala1157Thr | |
| ENST00000683623.1:c.3628G>A | ENSP00000507702.1:p.Ala1210Thr | |
| ENST00000683645.1:n.4272G>A | ||
| ENST00000683796.1:c.*3593G>A | ENSP00000508221.1:n.*3593G>A | |
| ENST00000683802.1:n.6646G>A | ||
| ENST00000683833.1:c.3712G>A | ENSP00000506852.1:p.Ala1238Thr | |
| ENST00000683994.1:c.3721G>A | ENSP00000507181.1:p.Ala1241Thr | |
| ENST00000684290.1:c.*1257G>A | ENSP00000507243.1:n.*1257G>A | |
| ENST00000684306.1:c.*3634G>A | ENSP00000508384.1:n.*3634G>A | |
| ENST00000684341.1:n.3741G>A | ||
| ENST00000684383.1:c.*3359G>A | ENSP00000506863.1:n.*3359G>A | |
| ENST00000684418.1:n.4902G>A | ||
| ENST00000684433.1:n.105G>A | ||
| ENST00000684454.1:n.3071G>A | ||
| ENST00000684619.1:c.*3593G>A | ENSP00000508088.1:n.*3593G>A | |
| ENST00000684743.1:n.6466G>A | ||
| ENST00000260665.12:c.3721G>A MANE Select | ENSP00000260665.7:p.Ala1241Thr | |
| ENST00000260665.11:c.3721G>A | ENSP00000260665.7:p.Ala1241Thr | |
| ENST00000463456.5:n.2764G>A | ||
| ENST00000472420.5:n.118G>A | ||
| ENST00000483489.1:n.195G>A | ||
| NM_133259.3:c.3721G>A | NP_573566.2:p.Ala1241Thr | |
| XM_006711915.2:c.3643G>A | XP_006711978.1:p.Ala1215Thr | |
| XM_011532473.1:c.3721G>A | XP_011530775.1:p.Ala1241Thr | |
| XM_011532474.1:c.3721G>A | XP_011530776.1:p.Ala1241Thr | |
| XM_017003117.1:c.3643G>A | XP_016858606.1:p.Ala1215Thr | |
| XR_002958896.1:n.3763G>A | ||
| NM_133259.4:c.3721G>A MANE Select | NP_573566.2:p.Ala1241Thr |