Linked Data
ClinVar Variation Id:
1586312
dbSNP Id:
rs781081744
ExAC:
15:67477192 G / A
gnomAD v2:
15-67477192-G-A
gnomAD v4:
15-67184854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67184854G>A , CM000677.2:g.67184854G>A | GRCh38 |
| NC_000015.9:g.67477192G>A , CM000677.1:g.67477192G>A | GRCh37 |
| NC_000015.8:g.65264246G>A | NCBI36 |
| NG_011990.1:g.123998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558428.6:c.414G>A | ENSP00000454165.2:p.Lys138= | |
| ENST00000558739.2:c.684G>A | ENSP00000453684.2:p.Lys228= | |
| ENST00000558827.2:c.414G>A | ENSP00000452767.2:p.Lys138= | |
| ENST00000559460.6:c.684G>A | ENSP00000453082.2:p.Lys228= | |
| ENST00000560424.2:c.999G>A | ENSP00000455540.2:p.Lys333= | |
| ENST00000327367.9:c.999G>A MANE Select | ENSP00000332973.4:p.Lys333= | |
| ENST00000679624.1:c.684G>A | ENSP00000505445.1:p.Lys228= | |
| ENST00000680689.1:n.702G>A | ||
| ENST00000681239.1:c.684G>A | ENSP00000505641.1:p.Lys228= | |
| ENST00000327367.8:c.999G>A | ENSP00000332973.4:p.Lys333= | |
| ENST00000439724.7:c.867G>A | ENSP00000401133.3:p.Lys289= | |
| ENST00000537194.6:c.414G>A | ENSP00000445348.2:p.Lys138= | |
| ENST00000540846.6:c.684G>A | ENSP00000437757.2:p.Lys228= | |
| ENST00000558894.5:c.557-2511G>A | ENSP00000458060.1:n.557-2511G>A | |
| ENST00000560402.1:n.283-8019G>A | ||
| ENST00000560424.1:c.80G>A | ||
| NM_001145102.1:c.684G>A | NP_001138574.1:p.Lys228= | |
| NM_001145103.1:c.867G>A | NP_001138575.1:p.Lys289= | |
| NM_001145104.1:c.414G>A | NP_001138576.1:p.Lys138= | |
| NM_005902.3:c.999G>A | NP_005893.1:p.Lys333= | |
| XM_011521559.1:c.867G>A | XP_011519861.1:p.Lys289= | |
| XM_011521560.1:c.852G>A | XP_011519862.1:p.Lys284= | |
| XM_011521559.3:c.867G>A | XP_011519861.1:p.Lys289= | |
| NM_005902.4:c.999G>A MANE Select | NP_005893.1:p.Lys333= | |
| NM_001145102.2:c.684G>A | NP_001138574.1:p.Lys228= | |
| NM_001145103.2:c.867G>A | NP_001138575.1:p.Lys289= | |
| NM_001145104.2:c.414G>A | NP_001138576.1:p.Lys138= |