Linked Data
ClinVar Variation Id:
525429
ClinVar RCV Id:
RCV000629485
dbSNP Id:
rs753983449
ExAC:
7:21920453 C / A
gnomAD v2:
7-21920453-C-A
gnomAD v3:
7-21880835-C-A
gnomAD v4:
7-21880835-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21880835C>A , CM000669.2:g.21880835C>A | GRCh38 |
| NC_000007.13:g.21920453C>A , CM000669.1:g.21920453C>A | GRCh37 |
| NC_000007.12:g.21886978C>A | NCBI36 |
| NG_012886.2:g.342621C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.12329C>A MANE Select | ENSP00000475939.1:p.Pro4110His | |
| ENST00000328843.10:c.12350C>A | ENSP00000330671.7:p.Pro4117His | |
| ENST00000409508.7:c.12329C>A | ENSP00000475939.1:p.Pro4110His | |
| ENST00000620169.4:c.12350C>A | ENSP00000481693.1:p.Pro4117His | |
| NM_001277115.1:c.12329C>A | NP_001264044.1:p.Pro4110His | |
| NM_001277115.2:c.12329C>A MANE Select | NP_001264044.1:p.Pro4110His |