Linked Data
dbSNP Id:
rs779919285
ExAC:
15:74632109 G / A
gnomAD v2:
15-74632109-G-A
gnomAD v4:
15-74339768-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74339768G>A , CM000677.2:g.74339768G>A | GRCh38 |
| NC_000015.9:g.74632109G>A , CM000677.1:g.74632109G>A | GRCh37 |
| NC_000015.8:g.72419162G>A | NCBI36 |
| NG_007973.1:g.32974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268053.11:c.991-15C>T MANE Select | ENSP00000268053.6:n.991-15C>T | |
| ENST00000268053.10:c.991-15C>T | ENSP00000268053.6:n.991-15C>T | |
| ENST00000358632.8:c.517-15C>T | ENSP00000351455.4:n.517-15C>T | |
| ENST00000435365.5:c.991-15C>T | ENSP00000391081.1:n.991-15C>T | |
| ENST00000566674.5:c.517-15C>T | ENSP00000456941.1:n.517-15C>T | |
| NM_000781.2:c.991-15C>T | NP_000772.2:n.991-15C>T | |
| NM_001099773.1:c.517-15C>T | NP_001093243.1:n.517-15C>T | |
| NM_000781.3:c.991-15C>T MANE Select | NP_000772.2:n.991-15C>T | |
| NM_001099773.2:c.517-15C>T | NP_001093243.1:n.517-15C>T |