Linked Data
dbSNP Id:
rs529024504
gnomAD v2:
12-124229013-C-T
gnomAD v3:
12-123744466-C-T
gnomAD v4:
12-123744466-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123744466C>T , CM000674.2:g.123744466C>T | GRCh38 |
| NC_000012.11:g.124229013C>T , CM000674.1:g.124229013C>T | GRCh37 |
| NC_000012.10:g.122794966C>T | NCBI36 |
| NG_012743.1:g.37149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1326+129C>T MANE Select | ENSP00000332247.2:n.1326+129C>T | |
| ENST00000540368.6:n.1357+129C>T | ||
| ENST00000674794.1:c.1414+129C>T | ||
| ENST00000675260.1:n.601+129C>T | ||
| ENST00000675344.1:c.*347+129C>T | ENSP00000501953.1:n.*347+129C>T | |
| ENST00000330342.7:c.1326+129C>T | ENSP00000332247.2:n.1326+129C>T | |
| ENST00000504192.2:c.936+129C>T | ENSP00000443441.1:n.936+129C>T | |
| ENST00000536426.1:n.343+129C>T | ||
| ENST00000545059.5:n.3962+129C>T | ||
| NM_012463.3:c.1326+129C>T | NP_036595.2:n.1326+129C>T | |
| XM_005253563.1:c.1326+129C>T | XP_005253620.1:n.1326+129C>T | |
| XM_006719317.2:c.813+129C>T | XP_006719380.1:n.813+129C>T | |
| XM_006719318.2:c.504+129C>T | XP_006719381.1:n.504+129C>T | |
| XR_429088.1:n.1489+129C>T | ||
| XM_024448910.1:c.1326+129C>T | XP_024304678.1:n.1326+129C>T | |
| XM_024448911.1:c.813+129C>T | XP_024304679.1:n.813+129C>T | |
| XM_024448912.1:c.504+129C>T | XP_024304680.1:n.504+129C>T | |
| NM_012463.4:c.1326+129C>T MANE Select | NP_036595.2:n.1326+129C>T |