Linked Data
ClinVar Variation Id:
388752
dbSNP Id:
rs377436527
ExAC:
12:57905470 C / T
gnomAD v2:
12-57905470-C-T
gnomAD v3:
12-57511687-C-T
gnomAD v4:
12-57511687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57511687C>T , CM000674.2:g.57511687C>T | GRCh38 |
| NC_000012.11:g.57905470C>T , CM000674.1:g.57905470C>T | GRCh37 |
| NC_000012.10:g.56191737C>T | NCBI36 |
| NG_034077.1:g.28735C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.1369-11C>T MANE Select | ENSP00000262027.5:n.1369-11C>T | |
| ENST00000262027.9:c.1369-11C>T | ENSP00000262027.5:n.1369-11C>T | |
| ENST00000447721.6:n.1011-11C>T | ||
| ENST00000537638.6:c.1369-11C>T | ENSP00000446168.2:n.1369-11C>T | |
| ENST00000545888.6:c.*870-11C>T | ENSP00000439307.2:n.*870-11C>T | |
| ENST00000546971.5:n.102C>T | ||
| ENST00000548944.1:c.134-4808C>T | ENSP00000449071.1:n.134-4808C>T | |
| ENST00000549603.1:n.315-11C>T | ||
| ENST00000628866.2:c.*870-11C>T | ENSP00000486738.1:n.*870-11C>T | |
| NM_004990.3:c.1369-11C>T | NP_004981.2:n.1369-11C>T | |
| XM_006719398.2:c.667-11C>T | XP_006719461.1:n.667-11C>T | |
| XM_011538353.1:c.1369-11C>T | XP_011536655.1:n.1369-11C>T | |
| XM_006719398.4:c.667-11C>T | XP_006719461.1:n.667-11C>T | |
| XR_001748704.2:n.1392-11C>T | ||
| XR_002957327.1:n.1316-11C>T | ||
| NM_004990.4:c.1369-11C>T MANE Select | NP_004981.2:n.1369-11C>T |