Linked Data
ClinVar Variation Id:
353665
ClinVar RCV Id:
RCV000325696
dbSNP Id:
rs370659097
ExAC:
5:41842896 G / A
gnomAD v2:
5-41842896-G-A
gnomAD v3:
5-41842794-G-A
gnomAD v4:
5-41842794-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41842794G>A , CM000667.2:g.41842794G>A | GRCh38 |
| NC_000005.9:g.41842896G>A , CM000667.1:g.41842896G>A | GRCh37 |
| NC_000005.8:g.41878653G>A | NCBI36 |
| NG_011823.1:g.32896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196371.10:c.565-13C>T MANE Select | ENSP00000196371.5:n.565-13C>T | |
| ENST00000196371.9:c.565-13C>T | ENSP00000196371.5:n.565-13C>T | |
| ENST00000509987.1:c.7-13C>T | ENSP00000425348.1:n.7-13C>T | |
| NM_000436.3:c.565-13C>T | NP_000427.1:n.565-13C>T | |
| XR_427658.2:n.741-13C>T | ||
| NM_001364299.1:c.586-13C>T | NP_001351228.1:n.586-13C>T | |
| NM_001364300.1:c.586-13C>T | NP_001351229.1:n.586-13C>T | |
| NM_001364301.1:c.565-13C>T | NP_001351230.1:n.565-13C>T | |
| NM_001364302.1:c.565-13C>T | NP_001351231.1:n.565-13C>T | |
| NM_001364303.1:c.7-13C>T | NP_001351232.1:n.7-13C>T | |
| NR_157114.1:n.632-13C>T | ||
| XR_001742081.2:n.742-13C>T | ||
| NM_000436.4:c.565-13C>T MANE Select | NP_000427.1:n.565-13C>T | |
| NM_001364299.2:c.586-13C>T | NP_001351228.1:n.586-13C>T | |
| NM_001364300.2:c.586-13C>T | NP_001351229.1:n.586-13C>T | |
| NM_001364301.2:c.565-13C>T | NP_001351230.1:n.565-13C>T | |
| NM_001364302.2:c.565-13C>T | NP_001351231.1:n.565-13C>T | |
| NR_157114.2:n.632-13C>T | ||
| NM_001364303.2:c.7-13C>T | NP_001351232.1:n.7-13C>T |