Linked Data
ClinVar Variation Id:
1561625
ClinVar RCV Id:
RCV002200379
dbSNP Id:
rs1330672556
gnomAD v2:
8-48730025-G-A
gnomAD v4:
8-47817464-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47817464G>A , CM000670.2:g.47817464G>A | GRCh38 |
| NC_000008.10:g.48730025G>A , CM000670.1:g.48730025G>A | GRCh37 |
| NC_000008.9:g.48892578G>A | NCBI36 |
| NG_023435.1:g.147720C>T , LRG_162:g.147720C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697603.1:c.2220C>T | ENSP00000513358.1:p.Asp740= | |
| ENST00000697607.1:n.1075C>T | ||
| ENST00000314191.7:c.9543C>T MANE Select | ENSP00000313420.3:p.Asp3181= | |
| ENST00000314191.6:c.9543C>T | ENSP00000313420.3:p.Asp3181= | |
| ENST00000338368.7:c.9543C>T | ENSP00000345182.4:p.Asp3181= | |
| NM_001081640.1:c.9543C>T | NP_001075109.1:p.Asp3181= | |
| NM_006904.6:c.9543C>T , LRG_162t1:c.9543C>T | NP_008835.5:p.Asp3181= | |
| XM_011517567.1:c.9546C>T | XP_011515869.1:p.Asp3182= | |
| XM_011517568.1:c.9546C>T | XP_011515870.1:p.Asp3182= | |
| NM_001081640.2:c.9543C>T | NP_001075109.1:p.Asp3181= | |
| NM_006904.7:c.9543C>T MANE Select | NP_008835.5:p.Asp3181= |