Linked Data
ClinVar Variation Id:
281129
dbSNP Id:
rs3815655
ExAC:
22:18923713 G / A
gnomAD v2:
22-18923713-G-A
gnomAD v3:
22-18936200-G-A
gnomAD v4:
22-18936200-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18936200G>A , CM000684.2:g.18936200G>A | GRCh38 |
| NC_000022.10:g.18923713G>A , CM000684.1:g.18923713G>A | GRCh37 |
| NC_000022.9:g.17303713G>A | NCBI36 |
| NG_008226.2:g.5354C>T | |
| NG_008226.3:g.5354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.88C>T MANE Select | ENSP00000349577.6:p.Pro30Ser | |
| ENST00000638240.1:c.514-3473G>A | ENSP00000492446.1:n.514-3473G>A | |
| ENST00000334029.6:c.-52+190C>T | ENSP00000334726.2:n.-52+190C>T | |
| ENST00000357068.10:c.88C>T | ENSP00000349577.6:p.Pro30Ser | |
| ENST00000420436.5:c.-65C>T | ENSP00000410805.1:n.-65C>T | |
| ENST00000457083.1:c.67C>T | ||
| ENST00000491604.5:n.96C>T | ||
| ENST00000610940.4:c.88C>T | ENSP00000480347.1:p.Pro30Ser | |
| NM_001195226.1:c.-52+190C>T | NP_001182155.1:n.-52+190C>T | |
| NM_016335.4:c.88C>T | NP_057419.4:p.Pro30Ser | |
| XM_011530278.1:c.-421C>T | XP_011528580.1:n.-421C>T | |
| XR_937876.1:n.121C>T | ||
| NM_001195226.2:c.-52+190C>T | NP_001182155.2:n.-52+190C>T | |
| NM_016335.5:c.88C>T | NP_057419.5:p.Pro30Ser | |
| NM_016335.6:c.88C>T MANE Select | NP_057419.5:p.Pro30Ser |