Linked Data
ClinVar Variation Id:
1763609
ClinVar RCV Id:
RCV002447690
dbSNP Id:
rs1452914602
gnomAD v2:
15-66777483-G-A
gnomAD v3:
15-66485145-G-A
gnomAD v4:
15-66485145-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66485145G>A , CM000677.2:g.66485145G>A | GRCh38 |
| NC_000015.9:g.66777483G>A , CM000677.1:g.66777483G>A | GRCh37 |
| NC_000015.8:g.64564537G>A | NCBI36 |
| NG_008305.1:g.103273G>A , LRG_725:g.103273G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684779.1:c.628-2083G>A | ENSP00000508681.1:n.628-2083G>A | |
| ENST00000685172.1:c.849G>A | ENSP00000509604.1:p.Ala283= | |
| ENST00000685763.1:c.702G>A | ENSP00000509016.1:p.Ala234= | |
| ENST00000686347.1:c.569-2083G>A | ENSP00000509027.1:n.569-2083G>A | |
| ENST00000687191.1:n.1207G>A | ||
| ENST00000687481.1:n.264G>A | ||
| ENST00000689951.1:c.900G>A | ENSP00000509308.1:p.Ala300= | |
| ENST00000691077.1:c.*86G>A | ENSP00000509843.1:n.*86G>A | |
| ENST00000691576.1:c.720G>A | ENSP00000510066.1:p.Ala240= | |
| ENST00000691937.1:c.849G>A | ENSP00000508768.1:p.Ala283= | |
| ENST00000692487.1:c.*86G>A | ENSP00000509534.1:n.*86G>A | |
| ENST00000692683.1:c.783G>A | ENSP00000508437.1:p.Ala261= | |
| ENST00000693150.1:c.705G>A | ENSP00000510309.1:p.Ala235= | |
| ENST00000307102.10:c.849G>A MANE Select | ENSP00000302486.5:p.Ala283= | |
| ENST00000307102.9:c.849G>A | ENSP00000302486.4:p.Ala283= | |
| ENST00000566326.1:c.321G>A | ENSP00000456438.1:p.Ala107= | |
| NM_002755.3:c.849G>A , LRG_725t1:c.849G>A | NP_002746.1:p.Ala283= | |
| XM_011521783.1:c.783G>A | XP_011520085.1:p.Ala261= | |
| XM_011521783.3:c.783G>A | XP_011520085.1:p.Ala261= | |
| XM_017022411.2:c.771G>A | XP_016877900.1:p.Ala257= | |
| XM_017022412.1:c.705G>A | XP_016877901.1:p.Ala235= | |
| XM_017022413.1:c.321G>A | XP_016877902.1:p.Ala107= | |
| NM_002755.4:c.849G>A MANE Select | NP_002746.1:p.Ala283= |