Linked Data
ClinVar Variation Id:
2377350
ClinVar RCV Id:
RCV002670479
dbSNP Id:
rs1407550778
gnomAD v2:
7-107533711-G-A
gnomAD v3:
7-107893266-G-A
gnomAD v4:
7-107893266-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107893266G>A , CM000669.2:g.107893266G>A | GRCh38 |
| NC_000007.13:g.107533711G>A , CM000669.1:g.107533711G>A | GRCh37 |
| NC_000007.12:g.107320947G>A | NCBI36 |
| NG_008045.1:g.7126G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.106G>A MANE Select | ENSP00000205402.3:p.Ala36Thr | |
| ENST00000639772.1:c.106G>A | ENSP00000492159.1:p.Ala36Thr | |
| ENST00000205402.9:c.106G>A | ENSP00000205402.3:p.Ala36Thr | |
| ENST00000415325.5:c.106G>A | ENSP00000402593.1:p.Ala36Thr | |
| ENST00000417551.5:c.106G>A | ENSP00000390667.1:p.Ala36Thr | |
| ENST00000437604.6:c.106G>A | ENSP00000387542.2:p.Ala36Thr | |
| ENST00000440410.5:c.106G>A | ENSP00000417016.1:p.Ala36Thr | |
| ENST00000450038.5:c.106G>A | ENSP00000409590.1:p.Ala36Thr | |
| ENST00000451081.5:c.106G>A | ENSP00000388077.1:p.Ala36Thr | |
| ENST00000453354.5:n.171G>A | ||
| ENST00000460577.5:n.140G>A | ||
| ENST00000485066.1:n.195G>A | ||
| ENST00000494441.1:n.251G>A | ||
| NM_000108.4:c.106G>A | NP_000099.2:p.Ala36Thr | |
| NM_001289750.1:c.-43G>A | NP_001276679.1:n.-43G>A | |
| NM_001289751.1:c.106G>A | NP_001276680.1:p.Ala36Thr | |
| NM_001289752.1:c.106G>A | NP_001276681.1:p.Ala36Thr | |
| NM_000108.5:c.106G>A MANE Select | NP_000099.2:p.Ala36Thr |