Linked Data
ClinVar Variation Id:
510455
ClinVar RCV Id:
RCV001712632
dbSNP Id:
rs1371899202
gnomAD v2:
12-124220075-C-T
gnomAD v4:
12-123735528-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123735528C>T , CM000674.2:g.123735528C>T | GRCh38 |
| NC_000012.11:g.124220075C>T , CM000674.1:g.124220075C>T | GRCh37 |
| NC_000012.10:g.122786028C>T | NCBI36 |
| NG_012743.1:g.28211C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.732-3C>T MANE Select | ENSP00000332247.2:n.732-3C>T | |
| ENST00000540368.6:n.763-3C>T | ||
| ENST00000613625.5:c.732-3C>T | ENSP00000482236.1:n.732-3C>T | |
| ENST00000674794.1:c.172-3C>T | ||
| ENST00000675344.1:c.732-3C>T | ENSP00000501953.1:n.732-3C>T | |
| ENST00000330342.7:c.732-3C>T | ENSP00000332247.2:n.732-3C>T | |
| ENST00000504192.2:c.342-3C>T | ENSP00000443441.1:n.342-3C>T | |
| ENST00000540368.5:n.942-3C>T | ||
| ENST00000545059.5:n.3368-3C>T | ||
| ENST00000613625.4:c.732-3C>T | ENSP00000482236.1:n.732-3C>T | |
| NM_012463.3:c.732-3C>T | NP_036595.2:n.732-3C>T | |
| XM_005253563.1:c.732-3C>T | XP_005253620.1:n.732-3C>T | |
| XM_006719317.2:c.219-3C>T | XP_006719380.1:n.219-3C>T | |
| XR_429088.1:n.895-3C>T | ||
| XM_024448910.1:c.732-3C>T | XP_024304678.1:n.732-3C>T | |
| XM_024448911.1:c.219-3C>T | XP_024304679.1:n.219-3C>T | |
| NM_012463.4:c.732-3C>T MANE Select | NP_036595.2:n.732-3C>T |