Linked Data
ClinVar Variation Id:
1540651
ClinVar RCV Id:
RCV002172113
dbSNP Id:
rs777809590
gnomAD v2:
2-44132856-C-A
gnomAD v4:
2-43905717-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43905717C>A , CM000664.2:g.43905717C>A | GRCh38 |
| NC_000002.11:g.44132856C>A , CM000664.1:g.44132856C>A | GRCh37 |
| NC_000002.10:g.43986360C>A | NCBI36 |
| NG_008247.1:g.95289G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472420.6:n.418G>T | ||
| ENST00000681993.1:n.891G>T | ||
| ENST00000682295.1:c.494G>T | ENSP00000507499.1:n.494G>T | |
| ENST00000682303.1:c.*3125G>T | ENSP00000508325.1:n.*3125G>T | |
| ENST00000682308.1:c.3339G>T | ENSP00000507056.1:p.Thr1113= | |
| ENST00000682480.1:c.3357G>T | ENSP00000508344.1:p.Thr1119= | |
| ENST00000682546.1:c.3336G>T | ENSP00000508188.1:p.Thr1112= | |
| ENST00000682585.1:c.3339G>T | ENSP00000506885.1:p.Thr1113= | |
| ENST00000682595.1:n.3923G>T | ||
| ENST00000682607.1:c.1757G>T | ||
| ENST00000682612.1:c.191G>T | ||
| ENST00000682779.1:c.3330G>T | ENSP00000507947.1:p.Thr1110= | |
| ENST00000682845.1:n.2441G>T | ||
| ENST00000682885.1:c.3294G>T | ENSP00000508036.1:p.Thr1098= | |
| ENST00000682933.1:n.3413G>T | ||
| ENST00000683002.1:c.191G>T | ||
| ENST00000683072.1:n.3923G>T | ||
| ENST00000683080.1:n.958G>T | ||
| ENST00000683125.1:c.3447G>T | ENSP00000507939.1:p.Thr1149= | |
| ENST00000683213.1:c.3342G>T | ENSP00000507751.1:p.Thr1114= | |
| ENST00000683220.1:c.3369G>T | ENSP00000507151.1:p.Thr1123= | |
| ENST00000683329.1:n.4142G>T | ||
| ENST00000683346.1:c.*3214G>T | ENSP00000507458.1:n.*3214G>T | |
| ENST00000683409.1:n.1946G>T | ||
| ENST00000683459.1:n.3926G>T | ||
| ENST00000683528.1:c.191G>T | ||
| ENST00000683590.1:c.3087G>T | ENSP00000506820.1:p.Thr1029= | |
| ENST00000683623.1:c.3246G>T | ENSP00000507702.1:p.Thr1082= | |
| ENST00000683645.1:n.3890G>T | ||
| ENST00000683796.1:c.*3211G>T | ENSP00000508221.1:n.*3211G>T | |
| ENST00000683802.1:n.6264G>T | ||
| ENST00000683833.1:c.3330G>T | ENSP00000506852.1:p.Thr1110= | |
| ENST00000683994.1:c.3339G>T | ENSP00000507181.1:p.Thr1113= | |
| ENST00000684290.1:c.*875G>T | ENSP00000507243.1:n.*875G>T | |
| ENST00000684306.1:c.*3252G>T | ENSP00000508384.1:n.*3252G>T | |
| ENST00000684341.1:n.3359G>T | ||
| ENST00000684383.1:c.*2977G>T | ENSP00000506863.1:n.*2977G>T | |
| ENST00000684418.1:n.4520G>T | ||
| ENST00000684454.1:n.2689G>T | ||
| ENST00000684619.1:c.*3211G>T | ENSP00000508088.1:n.*3211G>T | |
| ENST00000684743.1:n.4370G>T | ||
| ENST00000260665.12:c.3339G>T MANE Select | ENSP00000260665.7:p.Thr1113= | |
| ENST00000260665.11:c.3339G>T | ENSP00000260665.7:p.Thr1113= | |
| NM_133259.3:c.3339G>T | NP_573566.2:p.Thr1113= | |
| XM_006711915.2:c.3261G>T | XP_006711978.1:p.Thr1087= | |
| XM_011532473.1:c.3339G>T | XP_011530775.1:p.Thr1113= | |
| XM_011532474.1:c.3339G>T | XP_011530776.1:p.Thr1113= | |
| XM_017003117.1:c.3261G>T | XP_016858606.1:p.Thr1087= | |
| XR_002958896.1:n.3381G>T | ||
| NM_133259.4:c.3339G>T MANE Select | NP_573566.2:p.Thr1113= |