Linked Data
dbSNP Id:
rs6002551
gnomAD v2:
22-42338152-G-A
gnomAD v3:
22-41942148-G-A
gnomAD v4:
22-41942148-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41942148G>A , CM000684.2:g.41942148G>A | GRCh38 |
| NC_000022.10:g.42338152G>A , CM000684.1:g.42338152G>A | GRCh37 |
| NC_000022.9:g.40668098G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000215980.10:c.402+1462C>T MANE Select | ENSP00000215980.5:n.402+1462C>T | |
| ENST00000215980.9:c.402+1462C>T | ENSP00000215980.5:n.402+1462C>T | |
| ENST00000402338.5:c.300+1462C>T | ENSP00000384731.1:n.300+1462C>T | |
| ENST00000402420.1:c.*7+1462C>T | ENSP00000384132.1:n.*7+1462C>T | |
| ENST00000404067.5:c.209-2952C>T | ENSP00000384814.1:n.209-2952C>T | |
| ENST00000407253.7:c.311-2952C>T | ENSP00000384743.3:n.311-2952C>T | |
| NM_001002876.2:c.311-2952C>T | NP_001002876.1:n.311-2952C>T | |
| NM_001304370.1:c.300+1462C>T | NP_001291299.1:n.300+1462C>T | |
| NM_001304372.1:c.*7+1462C>T | NP_001291301.1:n.*7+1462C>T | |
| NM_001304373.1:c.209-2952C>T | NP_001291302.1:n.209-2952C>T | |
| NM_024053.4:c.402+1462C>T | NP_076958.1:n.402+1462C>T | |
| XM_011530368.1:c.402+1462C>T | XP_011528670.1:n.402+1462C>T | |
| XM_011530368.2:c.402+1462C>T | XP_011528670.1:n.402+1462C>T | |
| NM_024053.5:c.402+1462C>T MANE Select | NP_076958.1:n.402+1462C>T | |
| NM_001002876.3:c.311-2952C>T | NP_001002876.1:n.311-2952C>T | |
| NM_001304370.2:c.300+1462C>T | NP_001291299.1:n.300+1462C>T | |
| NM_001304372.2:c.*7+1462C>T | NP_001291301.1:n.*7+1462C>T | |
| NM_001304373.2:c.209-2952C>T | NP_001291302.1:n.209-2952C>T |