Linked Data
ClinVar Variation Id:
314358
ClinVar RCV Id:
RCV000371401
dbSNP Id:
rs886050771
gnomAD v4:
14-75015630-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75015630C>A , CM000676.2:g.75015630C>A | GRCh38 |
| NC_000014.8:g.75482333C>A , CM000676.1:g.75482333C>A | GRCh37 |
| NC_000014.7:g.74552086C>A | NCBI36 |
| NG_008649.1:g.40903G>T , LRG_217:g.40903G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355774.7:c.*1452G>T MANE Select | ENSP00000348020.2:n.*1452G>T | |
| ENST00000355774.6:c.*1452G>T | ENSP00000348020.2:n.*1452G>T | |
| ENST00000380968.6:c.*1452G>T | ENSP00000370355.3:n.*1452G>T | |
| ENST00000554697.5:c.682G>T | ENSP00000451055.1:n.682G>T | |
| NM_001040108.1:c.*1452G>T , LRG_217t1:c.*1452G>T | NP_001035197.1:n.*1452G>T | |
| NM_014381.2:c.*1452G>T | NP_055196.2:n.*1452G>T | |
| XR_245681.2:n.4885G>T | ||
| XM_005267532.5:c.*1452G>T | XP_005267589.1:n.*1452G>T | |
| XM_005267533.5:c.*1452G>T | XP_005267590.1:n.*1452G>T | |
| XM_011536646.3:c.*1452G>T | XP_011534948.1:n.*1452G>T | |
| XM_024449538.1:c.*1452G>T | XP_024305306.1:n.*1452G>T | |
| XM_024449539.1:c.*1452G>T | XP_024305307.1:n.*1452G>T | |
| XR_001750225.2:n.4760G>T | ||
| XR_001750229.2:n.4740G>T | ||
| XR_245681.4:n.4832G>T | ||
| NM_001040108.2:c.*1452G>T MANE Select | NP_001035197.1:n.*1452G>T | |
| NM_014381.3:c.*1452G>T | NP_055196.2:n.*1452G>T |