Linked Data
ClinVar Variation Id:
14345
ClinVar RCV Id:
RCV001818161
dbSNP Id:
rs104894489
ExAC:
15:75185647 G / A
gnomAD v2:
15-75185647-G-A
gnomAD v3:
15-74893306-G-A
gnomAD v4:
15-74893306-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74893306G>A , CM000677.2:g.74893306G>A | GRCh38 |
| NC_000015.9:g.75185647G>A , CM000677.1:g.75185647G>A | GRCh37 |
| NC_000015.8:g.72972700G>A | NCBI36 |
| NG_008921.1:g.8238G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352410.9:c.656G>A MANE Select | ENSP00000318318.6:p.Arg219Gln | |
| ENST00000323744.10:c.487+504G>A | ENSP00000318192.6:n.487+504G>A | |
| ENST00000352410.8:c.656G>A | ENSP00000318318.6:p.Arg219Gln | |
| ENST00000535694.5:c.506G>A | ENSP00000440447.1:p.Arg169Gln | |
| ENST00000561470.5:c.*552G>A | ENSP00000454267.1:n.*552G>A | |
| ENST00000562606.5:c.596G>A | ENSP00000457020.1:p.Arg199Gln | |
| ENST00000562800.5:c.255+1817G>A | ENSP00000457619.1:n.255+1817G>A | |
| ENST00000563422.5:c.656G>A | ENSP00000457885.1:p.Arg219Gln | |
| ENST00000563786.5:c.596G>A | ENSP00000455241.1:p.Arg199Gln | |
| ENST00000564003.5:c.337+504G>A | ENSP00000454312.1:n.337+504G>A | |
| ENST00000565576.5:c.656G>A | ENSP00000454619.1:p.Arg219Gln | |
| ENST00000566377.5:c.656G>A | ENSP00000455405.1:p.Arg219Gln | |
| ENST00000567177.1:c.448+504G>A | ENSP00000457013.1:n.448+504G>A | |
| ENST00000569931.5:c.596G>A | ENSP00000455161.1:p.Arg199Gln | |
| NM_001289155.1:c.656G>A | NP_001276084.1:p.Arg219Gln | |
| NM_001289156.1:c.506G>A | NP_001276085.1:p.Arg169Gln | |
| NM_001289157.1:c.487+504G>A | NP_001276086.1:n.487+504G>A | |
| NM_002435.2:c.656G>A | NP_002426.1:p.Arg219Gln | |
| XM_011521592.1:c.644G>A | XP_011519894.1:p.Arg215Gln | |
| XM_011521593.1:c.596G>A | XP_011519895.1:p.Arg199Gln | |
| NM_001330372.1:c.596G>A | NP_001317301.1:p.Arg199Gln | |
| XM_017022208.1:c.596G>A | XP_016877697.1:p.Arg199Gln | |
| XM_017022209.2:c.506G>A | XP_016877698.1:p.Arg169Gln | |
| NM_002435.3:c.656G>A MANE Select | NP_002426.1:p.Arg219Gln | |
| NM_001289155.2:c.656G>A | NP_001276084.1:p.Arg219Gln | |
| NM_001289156.2:c.506G>A | NP_001276085.1:p.Arg169Gln | |
| NM_001289157.2:c.487+504G>A | NP_001276086.1:n.487+504G>A | |
| NM_001330372.2:c.596G>A | NP_001317301.1:p.Arg199Gln |