Linked Data
ClinVar Variation Id:
382952
dbSNP Id:
rs199501793
ExAC:
15:80460586 T / G
gnomAD v2:
15-80460586-T-G
gnomAD v3:
15-80168244-T-G
gnomAD v4:
15-80168244-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80168244T>G , CM000677.2:g.80168244T>G | GRCh38 |
| NC_000015.9:g.80460586T>G , CM000677.1:g.80460586T>G | GRCh37 |
| NC_000015.8:g.78247641T>G | NCBI36 |
| NG_012833.1:g.20246T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.723T>G | ||
| ENST00000684569.1:n.599-20T>G | ||
| ENST00000561421.6:c.554-20T>G MANE Select | ENSP00000453347.2:n.554-20T>G | |
| ENST00000646551.1:n.2181-20T>G | ||
| ENST00000261755.9:c.554-20T>G | ENSP00000261755.5:n.554-20T>G | |
| ENST00000407106.5:c.554-20T>G | ENSP00000385080.1:n.554-20T>G | |
| ENST00000539156.5:c.344-20T>G | ENSP00000454271.1:n.344-20T>G | |
| ENST00000558514.1:n.100-20T>G | ||
| ENST00000558627.1:n.482-20T>G | ||
| ENST00000561421.5:c.554-20T>G | ENSP00000453347.1:n.554-20T>G | |
| NM_000137.2:c.554-20T>G | NP_000128.1:n.554-20T>G | |
| XM_024449872.1:c.554-20T>G | XP_024305640.1:n.554-20T>G | |
| NM_000137.4:c.554-20T>G MANE Select | NP_000128.1:n.554-20T>G | |
| NM_001374377.1:c.554-20T>G | NP_001361306.1:n.554-20T>G | |
| NM_001374380.1:c.554-20T>G | NP_001361309.1:n.554-20T>G |