Linked Data
ClinVar Variation Id:
2146723
ClinVar RCV Id:
RCV003076820
dbSNP Id:
rs766071720
ExAC:
22:50964919 C / T
gnomAD v2:
22-50964919-C-T
gnomAD v3:
22-50526490-C-T
gnomAD v4:
22-50526490-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50526490C>T , CM000684.2:g.50526490C>T | GRCh38 |
| NC_000022.10:g.50964919C>T , CM000684.1:g.50964919C>T | GRCh37 |
| NC_000022.9:g.49311785C>T | NCBI36 |
| NG_011860.1:g.8596G>A , LRG_727:g.8596G>A | |
| NG_016235.1:g.4950G>A | |
| NG_021419.1:g.23275C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.929-14G>A MANE Select | ENSP00000252029.3:n.929-14G>A | |
| ENST00000395680.6:c.929-14G>A | ENSP00000379037.1:n.929-14G>A | |
| ENST00000395681.6:c.929-14G>A | ENSP00000379038.1:n.929-14G>A | |
| ENST00000650719.1:c.810-14G>A | ENSP00000498276.1:n.810-14G>A | |
| ENST00000651401.1:c.413-14G>A | ENSP00000499115.1:n.413-14G>A | |
| ENST00000652401.1:c.430-14G>A | ||
| ENST00000252029.7:c.929-14G>A | ENSP00000252029.3:n.929-14G>A | |
| ENST00000395678.7:c.929-14G>A | ENSP00000379036.3:n.929-14G>A | |
| ENST00000395680.5:c.929-14G>A | ENSP00000379037.1:n.929-14G>A | |
| ENST00000395681.5:c.929-14G>A | ENSP00000379038.1:n.929-14G>A | |
| ENST00000425169.1:c.830-14G>A | ENSP00000395875.1:n.830-14G>A | |
| ENST00000476284.1:n.935-14G>A | ||
| ENST00000487577.5:n.1216-14G>A | ||
| NM_001113755.2:c.929-14G>A | NP_001107227.1:n.929-14G>A | |
| NM_001113756.2:c.929-14G>A | NP_001107228.1:n.929-14G>A | |
| NM_001257988.1:c.929-14G>A , LRG_727t1:c.929-14G>A | NP_001244917.1:n.929-14G>A | |
| NM_001257989.1:c.929-14G>A , LRG_727t2:c.929-14G>A | NP_001244918.1:n.929-14G>A | |
| NM_001953.4:c.929-14G>A | NP_001944.1:n.929-14G>A | |
| NM_001113755.3:c.929-14G>A | NP_001107227.1:n.929-14G>A | |
| NM_001113756.3:c.929-14G>A | NP_001107228.1:n.929-14G>A | |
| NM_001953.5:c.929-14G>A MANE Select | NP_001944.1:n.929-14G>A |