Linked Data
ClinVar Variation Id:
313386
dbSNP Id:
rs841
ExAC:
14:55310492 G / A
gnomAD:
14:55310492 G / A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54843774G>A , CM000676.2:g.54843774G>A | GRCh38 |
| NC_000014.8:g.55310492G>A , CM000676.1:g.55310492G>A | GRCh37 |
| NC_000014.7:g.54380242G>A | NCBI36 |
| NG_008647.1:g.64051C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395514.5:c.*16+227C>T | ENSP00000378890.1:p.= | |
| ENST00000491895.6:c.*243C>T | ENSP00000419045.2:p.= | |
| ENST00000536224.2:c.627-720C>T | ENSP00000445246.2:p.= | |
| ENST00000543643.6:c.*12+8C>T | ENSP00000444011.2:p.= | |
| ENST00000622544.4:c.*243C>T | ENSP00000477796.1:p.= | |
| NM_000161.2:c.*243C>T | NP_000152.1:p.= | |
| NM_001024024.1:c.*16+227C>T | NP_001019195.1:p.= | |
| NM_001024070.1:c.*12+8C>T | NP_001019241.1:p.= | |
| NM_001024071.1:c.627-720C>T | NP_001019242.1:p.= | |
| XM_005267530.1:c.*20C>T | XP_005267587.1:p.= | |
| XM_017021218.1:c.*243C>T | XP_016876707.1:p.= | |
| NM_000161.3:c.*243C>T MANE Select | NP_000152.1:p.= | |
| NM_001024070.2:c.*12+8C>T | NP_001019241.1:p.= | |
| NM_001024071.2:c.627-720C>T | NP_001019242.1:p.= | |
| NM_001024024.2:c.*16+227C>T | NP_001019195.1:p.= |