Linked Data
ClinVar Variation Id:
1106881
ClinVar RCV Id:
RCV001431739
dbSNP Id:
rs1388219398
gnomAD v2:
11-118896698-T-C
gnomAD v3:
11-119025988-T-C
gnomAD v4:
11-119025988-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025988T>C , CM000673.2:g.119025988T>C | GRCh38 |
| NC_000011.9:g.118896698T>C , CM000673.1:g.118896698T>C | GRCh37 |
| NC_000011.8:g.118401908T>C | NCBI36 |
| NG_013331.1:g.9918A>G , LRG_187:g.9918A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1107A>G | ||
| ENST00000697845.1:n.1887A>G | ||
| ENST00000697846.1:n.1107A>G | ||
| ENST00000697847.1:n.1202-231A>G | ||
| ENST00000697848.1:n.1193A>G | ||
| ENST00000697849.1:n.3002A>G | ||
| ENST00000697850.1:n.1193A>G | ||
| ENST00000697851.1:n.2801A>G | ||
| ENST00000638186.1:n.1267A>G | ||
| ENST00000638360.1:n.1099A>G | ||
| ENST00000638925.1:n.1232A>G | ||
| ENST00000650539.1:n.1369A>G | ||
| ENST00000330775.9:c.963A>G | ENSP00000476242.2:p.Thr321= | |
| ENST00000357590.9:c.963A>G | ENSP00000476176.2:p.Thr321= | |
| ENST00000524428.5:n.1199A>G | ||
| ENST00000525039.5:n.1387A>G | ||
| ENST00000525102.5:n.1721A>G | ||
| ENST00000525372.5:n.1061A>G | ||
| ENST00000526275.5:n.1745A>G | ||
| ENST00000527992.5:n.1191A>G | ||
| ENST00000529510.5:n.651A>G | ||
| ENST00000530407.5:n.1113A>G | ||
| ENST00000532085.1:n.4344A>G | ||
| ENST00000538950.5:c.744A>G | ENSP00000475991.2:p.Thr248= | |
| ENST00000545985.5:c.963A>G | ENSP00000475241.2:p.Thr321= | |
| NM_001164277.1:c.963A>G , LRG_187t1:c.963A>G | NP_001157749.1:p.Thr321= | |
| NM_001164278.1:c.963A>G | NP_001157750.1:p.Thr321= | |
| NM_001164279.1:c.744A>G | NP_001157751.1:p.Thr248= | |
| NM_001164280.1:c.963A>G | NP_001157752.1:p.Thr321= | |
| NM_001467.5:c.963A>G | NP_001458.1:p.Thr321= | |
| NM_001164278.2:c.963A>G | NP_001157750.1:p.Thr321= | |
| NM_001164279.2:c.744A>G | NP_001157751.1:p.Thr248= | |
| NM_001164280.2:c.963A>G | NP_001157752.1:p.Thr321= | |
| NM_001467.6:c.963A>G | NP_001458.1:p.Thr321= | |
| NM_001164277.2:c.963A>G MANE Select | NP_001157749.1:p.Thr321= |