Linked Data
ClinVar Variation Id:
391189
dbSNP Id:
rs377235629
ExAC:
12:124228494 G / T
gnomAD v2:
12-124228494-G-T
gnomAD v3:
12-123743947-G-T
gnomAD v4:
12-123743947-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123743947G>T , CM000674.2:g.123743947G>T | GRCh38 |
| NC_000012.11:g.124228494G>T , CM000674.1:g.124228494G>T | GRCh37 |
| NC_000012.10:g.122794447G>T | NCBI36 |
| NG_012743.1:g.36630G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1189+12G>T MANE Select | ENSP00000332247.2:n.1189+12G>T | |
| ENST00000540368.6:n.1220+12G>T | ||
| ENST00000674794.1:c.1277+12G>T | ||
| ENST00000675260.1:n.464+12G>T | ||
| ENST00000675344.1:c.*210+12G>T | ENSP00000501953.1:n.*210+12G>T | |
| ENST00000330342.7:c.1189+12G>T | ENSP00000332247.2:n.1189+12G>T | |
| ENST00000504192.2:c.799+12G>T | ENSP00000443441.1:n.799+12G>T | |
| ENST00000536426.1:n.206+12G>T | ||
| ENST00000545059.5:n.3825+12G>T | ||
| NM_012463.3:c.1189+12G>T | NP_036595.2:n.1189+12G>T | |
| XM_005253563.1:c.1189+12G>T | XP_005253620.1:n.1189+12G>T | |
| XM_006719317.2:c.676+12G>T | XP_006719380.1:n.676+12G>T | |
| XM_006719318.2:c.367+12G>T | XP_006719381.1:n.367+12G>T | |
| XR_429088.1:n.1352+12G>T | ||
| XM_024448910.1:c.1189+12G>T | XP_024304678.1:n.1189+12G>T | |
| XM_024448911.1:c.676+12G>T | XP_024304679.1:n.676+12G>T | |
| XM_024448912.1:c.367+12G>T | XP_024304680.1:n.367+12G>T | |
| NM_012463.4:c.1189+12G>T MANE Select | NP_036595.2:n.1189+12G>T |