Linked Data
dbSNP Id:
rs755940259
ExAC:
19:49477844 G / A
gnomAD v2:
19-49477844-G-A
gnomAD v3:
19-48974587-G-A
gnomAD v4:
19-48974587-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48974587G>A , CM000681.2:g.48974587G>A | GRCh38 |
| NC_000019.9:g.49477844G>A , CM000681.1:g.49477844G>A | GRCh37 |
| NC_000019.8:g.54169656G>A | NCBI36 |
| NG_012923.1:g.23767C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323798.8:c.1422+33C>T MANE Select | ENSP00000317904.3:n.1422+33C>T | |
| ENST00000263276.6:c.1230+33C>T | ENSP00000263276.6:n.1230+33C>T | |
| ENST00000323798.7:c.1422+33C>T | ENSP00000317904.3:n.1422+33C>T | |
| ENST00000472004.5:n.177+33C>T | ||
| ENST00000496048.1:n.329+33C>T | ||
| NM_001161587.1:c.1230+33C>T | NP_001155059.1:n.1230+33C>T | |
| NM_002103.4:c.1422+33C>T | NP_002094.2:n.1422+33C>T | |
| NR_027763.1:n.1481+33C>T | ||
| NM_002103.5:c.1422+33C>T MANE Select | NP_002094.2:n.1422+33C>T | |
| NM_001161587.2:c.1230+33C>T | NP_001155059.1:n.1230+33C>T | |
| NR_027763.2:n.1437+33C>T |