Linked Data
ClinVar Variation Id:
508836
dbSNP Id:
rs780170029
ExAC:
15:80472450 C / T
gnomAD v2:
15-80472450-C-T
gnomAD v4:
15-80180108-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80180108C>T , CM000677.2:g.80180108C>T | GRCh38 |
| NC_000015.9:g.80472450C>T , CM000677.1:g.80472450C>T | GRCh37 |
| NC_000015.8:g.78259505C>T | NCBI36 |
| NG_012833.1:g.32110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.1050-16C>T | ||
| ENST00000561421.6:c.961-16C>T MANE Select | ENSP00000453347.2:n.961-16C>T | |
| ENST00000646551.1:n.2575-16C>T | ||
| ENST00000261755.9:c.961-16C>T | ENSP00000261755.5:n.961-16C>T | |
| ENST00000407106.5:c.961-16C>T | ENSP00000385080.1:n.961-16C>T | |
| ENST00000539156.5:c.751-16C>T | ENSP00000454271.1:n.751-16C>T | |
| ENST00000559217.1:n.178-16C>T | ||
| ENST00000561353.2:c.59-16C>T | ||
| ENST00000561421.5:c.961-16C>T | ENSP00000453347.1:n.961-16C>T | |
| NM_000137.2:c.961-16C>T | NP_000128.1:n.961-16C>T | |
| XM_024449872.1:c.961-16C>T | XP_024305640.1:n.961-16C>T | |
| NM_000137.4:c.961-16C>T MANE Select | NP_000128.1:n.961-16C>T | |
| NM_001374377.1:c.961-16C>T | NP_001361306.1:n.961-16C>T | |
| NM_001374380.1:c.961-16C>T | NP_001361309.1:n.961-16C>T |