Linked Data
ClinVar Variation Id:
1987363
dbSNP Id:
rs374118996
ExAC:
1:230846260 A / G
gnomAD v2:
1-230846260-A-G
gnomAD v3:
1-230710514-A-G
gnomAD v4:
1-230710514-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230710514A>G , CM000663.2:g.230710514A>G | GRCh38 |
| NC_000001.10:g.230846260A>G , CM000663.1:g.230846260A>G | GRCh37 |
| NC_000001.9:g.228912883A>G | NCBI36 |
| NG_008836.1:g.9077T>C | |
| NG_008836.2:g.9077T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366667.6:c.310T>C MANE Select | ENSP00000355627.5:p.Leu104= | |
| ENST00000679684.1:c.310T>C | ENSP00000505981.1:p.Leu104= | |
| ENST00000679738.1:c.310T>C | ENSP00000505063.1:p.Leu104= | |
| ENST00000679802.1:c.310T>C | ENSP00000505184.1:p.Leu104= | |
| ENST00000679854.1:n.821T>C | ||
| ENST00000679957.1:c.310T>C | ENSP00000506646.1:p.Leu104= | |
| ENST00000680041.1:c.310T>C | ENSP00000504866.1:p.Leu104= | |
| ENST00000680783.1:c.310T>C | ENSP00000506329.1:p.Leu104= | |
| ENST00000681269.1:c.310T>C | ENSP00000505985.1:p.Leu104= | |
| ENST00000681347.1:n.821T>C | ||
| ENST00000681514.1:c.310T>C | ENSP00000505963.1:p.Leu104= | |
| ENST00000681772.1:c.310T>C | ENSP00000505829.1:p.Leu104= | |
| ENST00000366667.4:c.337T>C | ENSP00000355627.4:p.Leu113= | |
| NM_000029.3:c.337T>C | NP_000020.1:p.Leu113= | |
| NM_000029.4:c.337T>C | NP_000020.1:p.Leu113= | |
| NM_001382817.3:c.310T>C | NP_001369746.2:p.Leu104= | |
| NM_001384479.1:c.310T>C MANE Select | NP_001371408.1:p.Leu104= |