Linked Data
ClinVar Variation Id:
384378
dbSNP Id:
rs372013808
ExAC:
12:57905788 C / T
gnomAD v2:
12-57905788-C-T
gnomAD v3:
12-57512005-C-T
gnomAD v4:
12-57512005-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57512005C>T , CM000674.2:g.57512005C>T | GRCh38 |
| NC_000012.11:g.57905788C>T , CM000674.1:g.57905788C>T | GRCh37 |
| NC_000012.10:g.56192055C>T | NCBI36 |
| NG_034077.1:g.29053C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.1540-3C>T MANE Select | ENSP00000262027.5:n.1540-3C>T | |
| ENST00000262027.9:c.1540-3C>T | ENSP00000262027.5:n.1540-3C>T | |
| ENST00000447721.6:n.1182-3C>T | ||
| ENST00000537638.6:c.1540-3C>T | ENSP00000446168.2:n.1540-3C>T | |
| ENST00000545888.6:c.*1041-3C>T | ENSP00000439307.2:n.*1041-3C>T | |
| ENST00000546971.5:n.284-3C>T | ||
| ENST00000548630.1:n.101-3C>T | ||
| ENST00000548944.1:c.134-4490C>T | ENSP00000449071.1:n.134-4490C>T | |
| ENST00000549048.1:n.73-3C>T | ||
| ENST00000628866.2:c.*1041-3C>T | ENSP00000486738.1:n.*1041-3C>T | |
| NM_004990.3:c.1540-3C>T | NP_004981.2:n.1540-3C>T | |
| XM_006719398.2:c.838-3C>T | XP_006719461.1:n.838-3C>T | |
| XM_011538353.1:c.1540-3C>T | XP_011536655.1:n.1540-3C>T | |
| XM_006719398.4:c.838-3C>T | XP_006719461.1:n.838-3C>T | |
| XR_001748704.2:n.1563-3C>T | ||
| XR_002957327.1:n.1487-3C>T | ||
| NM_004990.4:c.1540-3C>T MANE Select | NP_004981.2:n.1540-3C>T |