Linked Data
ClinVar Variation Id:
2904875
ClinVar RCV Id:
RCV003654756
dbSNP Id:
rs1175489099
gnomAD v4:
15-66485169-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66485169G>A , CM000677.2:g.66485169G>A | GRCh38 |
| NC_000015.9:g.66777507G>A , CM000677.1:g.66777507G>A | GRCh37 |
| NC_000015.8:g.64564561G>A | NCBI36 |
| NG_008305.1:g.103297G>A , LRG_725:g.103297G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.628-2059G>A | ENSP00000508681.1:n.628-2059G>A | |
| ENST00000685172.1:c.873G>A | ENSP00000509604.1:p.Arg291= | |
| ENST00000685763.1:c.726G>A | ENSP00000509016.1:p.Arg242= | |
| ENST00000686347.1:c.569-2059G>A | ENSP00000509027.1:n.569-2059G>A | |
| ENST00000687191.1:n.1231G>A | ||
| ENST00000687481.1:n.288G>A | ||
| ENST00000689951.1:c.924G>A | ENSP00000509308.1:p.Arg308= | |
| ENST00000691077.1:c.*110G>A | ENSP00000509843.1:n.*110G>A | |
| ENST00000691576.1:c.744G>A | ENSP00000510066.1:p.Arg248= | |
| ENST00000691937.1:c.873G>A | ENSP00000508768.1:p.Arg291= | |
| ENST00000692487.1:c.*110G>A | ENSP00000509534.1:n.*110G>A | |
| ENST00000692683.1:c.807G>A | ENSP00000508437.1:p.Arg269= | |
| ENST00000693150.1:c.729G>A | ENSP00000510309.1:p.Arg243= | |
| ENST00000307102.10:c.873G>A MANE Select | ENSP00000302486.5:p.Arg291= | |
| ENST00000307102.9:c.873G>A | ENSP00000302486.4:p.Arg291= | |
| ENST00000566326.1:c.345G>A | ENSP00000456438.1:p.Arg115= | |
| NM_002755.3:c.873G>A , LRG_725t1:c.873G>A | NP_002746.1:p.Arg291= | |
| XM_011521783.1:c.807G>A | XP_011520085.1:p.Arg269= | |
| XM_011521783.3:c.807G>A | XP_011520085.1:p.Arg269= | |
| XM_017022411.2:c.795G>A | XP_016877900.1:p.Arg265= | |
| XM_017022412.1:c.729G>A | XP_016877901.1:p.Arg243= | |
| XM_017022413.1:c.345G>A | XP_016877902.1:p.Arg115= | |
| NM_002755.4:c.873G>A MANE Select | NP_002746.1:p.Arg291= |