Linked Data
dbSNP Id:
rs763268576
ExAC:
2:44145196 A / G
gnomAD v2:
2-44145196-A-G
gnomAD v3:
2-43918057-A-G
gnomAD v4:
2-43918057-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918057A>G , CM000664.2:g.43918057A>G | GRCh38 |
| NC_000002.11:g.44145196A>G , CM000664.1:g.44145196A>G | GRCh37 |
| NC_000002.10:g.43998700A>G | NCBI36 |
| NG_008247.1:g.82949T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.668T>C | ||
| ENST00000682295.1:c.303+199T>C | ENSP00000507499.1:n.303+199T>C | |
| ENST00000682303.1:c.*2902T>C | ENSP00000508325.1:n.*2902T>C | |
| ENST00000682308.1:c.3116T>C | ENSP00000507056.1:p.Ile1039Thr | |
| ENST00000682480.1:c.3134T>C | ENSP00000508344.1:p.Ile1045Thr | |
| ENST00000682546.1:c.3113T>C | ENSP00000508188.1:p.Ile1038Thr | |
| ENST00000682585.1:c.3116T>C | ENSP00000506885.1:p.Ile1039Thr | |
| ENST00000682595.1:n.3700T>C | ||
| ENST00000682607.1:c.1534T>C | ||
| ENST00000682779.1:c.3107T>C | ENSP00000507947.1:p.Ile1036Thr | |
| ENST00000682845.1:n.2218T>C | ||
| ENST00000682885.1:c.3071T>C | ENSP00000508036.1:p.Ile1024Thr | |
| ENST00000682933.1:n.3190T>C | ||
| ENST00000683072.1:n.3700T>C | ||
| ENST00000683080.1:n.735T>C | ||
| ENST00000683125.1:c.3224T>C | ENSP00000507939.1:p.Ile1075Thr | |
| ENST00000683213.1:c.3119T>C | ENSP00000507751.1:p.Ile1040Thr | |
| ENST00000683220.1:c.3146T>C | ENSP00000507151.1:p.Ile1049Thr | |
| ENST00000683329.1:n.3919T>C | ||
| ENST00000683346.1:c.*2991T>C | ENSP00000507458.1:n.*2991T>C | |
| ENST00000683409.1:n.1723T>C | ||
| ENST00000683459.1:n.3703T>C | ||
| ENST00000683590.1:c.2897-5499T>C | ENSP00000506820.1:n.2897-5499T>C | |
| ENST00000683623.1:c.3023T>C | ENSP00000507702.1:p.Ile1008Thr | |
| ENST00000683645.1:n.3667T>C | ||
| ENST00000683796.1:c.*2988T>C | ENSP00000508221.1:n.*2988T>C | |
| ENST00000683802.1:n.6041T>C | ||
| ENST00000683833.1:c.3107T>C | ENSP00000506852.1:p.Ile1036Thr | |
| ENST00000683994.1:c.3116T>C | ENSP00000507181.1:p.Ile1039Thr | |
| ENST00000684290.1:c.*652T>C | ENSP00000507243.1:n.*652T>C | |
| ENST00000684306.1:c.*3029T>C | ENSP00000508384.1:n.*3029T>C | |
| ENST00000684341.1:n.3136T>C | ||
| ENST00000684383.1:c.*2754T>C | ENSP00000506863.1:n.*2754T>C | |
| ENST00000684619.1:c.*2988T>C | ENSP00000508088.1:n.*2988T>C | |
| ENST00000684705.1:n.237T>C | ||
| ENST00000684743.1:n.4147T>C | ||
| ENST00000260665.12:c.3116T>C MANE Select | ENSP00000260665.7:p.Ile1039Thr | |
| ENST00000260665.11:c.3116T>C | ENSP00000260665.7:p.Ile1039Thr | |
| NM_133259.3:c.3116T>C | NP_573566.2:p.Ile1039Thr | |
| XM_006711915.2:c.3038T>C | XP_006711978.1:p.Ile1013Thr | |
| XM_006711916.2:c.3116T>C | XP_006711979.1:p.Ile1039Thr | |
| XM_011532473.1:c.3116T>C | XP_011530775.1:p.Ile1039Thr | |
| XM_011532474.1:c.3116T>C | XP_011530776.1:p.Ile1039Thr | |
| XM_006711916.3:c.3116T>C | XP_006711979.1:p.Ile1039Thr | |
| XM_017003117.1:c.3038T>C | XP_016858606.1:p.Ile1013Thr | |
| XR_002958896.1:n.3158T>C | ||
| NM_133259.4:c.3116T>C MANE Select | NP_573566.2:p.Ile1039Thr |