Linked Data
ClinVar Variation Id:
295640
dbSNP Id:
rs200579008
ExAC:
1:220326514 G / A
gnomAD v2:
1-220326514-G-A
gnomAD v3:
1-220153172-G-A
gnomAD v4:
1-220153172-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220153172G>A , CM000663.2:g.220153172G>A | GRCh38 |
| NC_000001.10:g.220326514G>A , CM000663.1:g.220326514G>A | GRCh37 |
| NC_000001.9:g.218393137G>A | NCBI36 |
| NG_015837.1:g.124330C>T | |
| NG_015837.2:g.124330C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474966.2:n.1859+13C>T | ||
| ENST00000491005.6:n.4893+13C>T | ||
| ENST00000491305.2:n.4362+13C>T | ||
| ENST00000685286.1:c.*1192+13C>T | ENSP00000509457.1:n.*1192+13C>T | |
| ENST00000685664.1:c.3867+13C>T | ENSP00000509121.1:n.3867+13C>T | |
| ENST00000686381.1:c.3603+13C>T | ENSP00000509555.1:n.3603+13C>T | |
| ENST00000687065.1:c.3603+13C>T | ENSP00000510408.1:n.3603+13C>T | |
| ENST00000687394.1:n.3986C>T | ||
| ENST00000687647.1:c.3603+13C>T | ENSP00000509205.1:n.3603+13C>T | |
| ENST00000688035.1:n.6877+13C>T | ||
| ENST00000690315.1:c.3768+13C>T | ENSP00000509834.1:n.3768+13C>T | |
| ENST00000690373.1:n.4206+13C>T | ||
| ENST00000690824.1:c.3792+88C>T | ENSP00000510709.1:n.3792+88C>T | |
| ENST00000691661.1:c.3879+13C>T | ENSP00000510185.1:n.3879+13C>T | |
| ENST00000691862.1:c.3765+13C>T | ENSP00000509291.1:n.3765+13C>T | |
| ENST00000692813.1:c.3831+13C>T | ENSP00000509080.1:n.3831+13C>T | |
| ENST00000692972.1:c.3942+13C>T | ENSP00000510753.1:n.3942+13C>T | |
| ENST00000693602.1:n.6453+13C>T | ||
| ENST00000358951.7:c.3867+13C>T MANE Select | ENSP00000351832.2:n.3867+13C>T | |
| ENST00000358951.6:c.3867+13C>T | ENSP00000351832.2:n.3867+13C>T | |
| ENST00000474966.1:n.538+13C>T | ||
| ENST00000491005.5:n.315+13C>T | ||
| ENST00000491305.1:n.683+13C>T | ||
| NM_012414.3:c.3867+13C>T | NP_036546.2:n.3867+13C>T | |
| NM_012414.4:c.3867+13C>T MANE Select | NP_036546.2:n.3867+13C>T |