Linked Data
ClinVar Variation Id:
2079066
ClinVar RCV Id:
RCV002982692
dbSNP Id:
rs1056398751
gnomAD v2:
21-45712176-C-T
gnomAD v3:
21-44292293-C-T
gnomAD v4:
21-44292293-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44292293C>T , CM000683.2:g.44292293C>T | GRCh38 |
| NC_000021.8:g.45712176C>T , CM000683.1:g.45712176C>T | GRCh37 |
| NC_000021.7:g.44536604C>T | NCBI36 |
| NG_009556.1:g.11414C>T , LRG_18:g.11414C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291582.6:c.996-9C>T MANE Select | ENSP00000291582.5:n.996-9C>T | |
| ENST00000291582.5:c.996-9C>T | ENSP00000291582.5:n.996-9C>T | |
| ENST00000337909.5:n.457-9C>T | ||
| ENST00000397994.8:n.457-9C>T | ||
| ENST00000527919.5:n.1726-9C>T | ||
| ENST00000530812.5:n.2743-9C>T | ||
| NM_000383.3:c.996-9C>T | NP_000374.1:n.996-9C>T | |
| XM_011529551.1:c.993-9C>T | XP_011527853.1:n.993-9C>T | |
| NM_000383.4:c.996-9C>T MANE Select | NP_000374.1:n.996-9C>T |