Linked Data
ClinVar Variation Id:
44846
dbSNP Id:
rs11970787
ExAC:
7:24757008 G / A
gnomAD v2:
7-24757008-G-A
gnomAD v3:
7-24717389-G-A
gnomAD v4:
7-24717389-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24717389G>A , CM000669.2:g.24717389G>A | GRCh38 |
| NC_000007.13:g.24757008G>A , CM000669.1:g.24757008G>A | GRCh37 |
| NC_000007.12:g.24723533G>A | NCBI36 |
| NG_011593.1:g.45632C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342947.9:c.577-15C>T | ENSP00000339587.3:n.577-15C>T | |
| ENST00000409970.6:c.85-15C>T | ENSP00000387119.1:n.85-15C>T | |
| ENST00000411476.3:n.346-15C>T | ||
| ENST00000414428.2:c.577-15C>T | ENSP00000413963.2:n.577-15C>T | |
| ENST00000419307.6:c.85-15C>T | ENSP00000401332.1:n.85-15C>T | |
| ENST00000446822.6:c.51-15C>T | ||
| ENST00000559637.6:n.272-15C>T | ||
| ENST00000645220.1:c.577-15C>T MANE Select | ENSP00000494186.1:n.577-15C>T | |
| ENST00000342947.7:c.577-15C>T | ENSP00000339587.3:n.577-15C>T | |
| ENST00000409775.7:c.577-15C>T | ENSP00000386670.3:n.577-15C>T | |
| ENST00000409970.5:c.85-15C>T | ENSP00000387119.1:n.85-15C>T | |
| ENST00000411476.2:c.346-15C>T | ENSP00000414090.2:n.346-15C>T | |
| ENST00000419307.5:c.85-15C>T | ENSP00000401332.1:n.85-15C>T | |
| ENST00000446822.5:c.51-15C>T | ||
| ENST00000493723.5:n.596-15C>T | ||
| ENST00000559637.5:n.272-15C>T | ||
| NM_001127453.1:c.577-15C>T | NP_001120925.1:n.577-15C>T | |
| NM_001127454.1:c.85-15C>T | NP_001120926.1:n.85-15C>T | |
| NM_004403.2:c.577-15C>T | NP_004394.1:n.577-15C>T | |
| XM_017011802.1:c.85-15C>T | XP_016867291.1:n.85-15C>T | |
| XM_024446670.1:c.577-15C>T | XP_024302438.1:n.577-15C>T | |
| NM_004403.3:c.577-15C>T | NP_004394.1:n.577-15C>T | |
| NM_001127453.2:c.577-15C>T MANE Select | NP_001120925.1:n.577-15C>T | |
| NM_001127454.2:c.85-15C>T | NP_001120926.1:n.85-15C>T |