Linked Data
ClinVar Variation Id:
1560634
ClinVar RCV Id:
RCV002197918
dbSNP Id:
rs1601120656
gnomAD v4:
21-37065732-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37065732A>T , CM000683.2:g.37065732A>T | GRCh38 |
| NC_000021.8:g.38438032A>T , CM000683.1:g.38438032A>T | GRCh37 |
| NC_000021.7:g.37359902A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360525.9:c.275-20T>A MANE Select | ENSP00000353719.3:n.275-20T>A | |
| ENST00000329667.7:n.224-20T>A | ||
| ENST00000360525.8:c.275-20T>A | ENSP00000353719.3:n.275-20T>A | |
| ENST00000399098.5:c.197-20T>A | ENSP00000382049.1:n.197-20T>A | |
| ENST00000399102.5:c.275-20T>A | ENSP00000382053.1:n.275-20T>A | |
| ENST00000399103.5:c.275-20T>A | ENSP00000382054.1:n.275-20T>A | |
| ENST00000464265.5:c.347-20T>A | ENSP00000420037.1:n.347-20T>A | |
| NM_153681.2:c.347-20T>A | NP_710148.1:n.347-20T>A | |
| NM_153682.2:c.275-20T>A | NP_710149.1:n.275-20T>A | |
| NR_028352.1:n.622-20T>A | ||
| XM_005260990.3:c.275-20T>A | XP_005261047.1:n.275-20T>A | |
| XM_011529595.1:c.275-20T>A | XP_011527897.1:n.275-20T>A | |
| XM_011529596.1:c.275-20T>A | XP_011527898.1:n.275-20T>A | |
| NM_001320480.1:c.275-20T>A | NP_001307409.1:n.275-20T>A | |
| NM_016430.3:c.197-20T>A | NP_057514.2:n.197-20T>A | |
| XM_017028365.1:c.197-20T>A | XP_016883854.1:n.197-20T>A | |
| NM_001320480.2:c.275-20T>A | NP_001307409.1:n.275-20T>A | |
| NM_016430.4:c.197-20T>A | NP_057514.2:n.197-20T>A | |
| NM_153682.3:c.275-20T>A MANE Select | NP_710149.1:n.275-20T>A |