Linked Data
ClinVar Variation Id:
1767260
ClinVar RCV Id:
RCV004056881
gnomAD v4:
8-47817485-G-A
MyVariant Identifiers:
chr8:g.48730046G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47817485G>A , CM000670.2:g.47817485G>A | GRCh38 |
| NC_000008.10:g.48730046G>A , CM000670.1:g.48730046G>A | GRCh37 |
| NC_000008.9:g.48892599G>A | NCBI36 |
| NG_023435.1:g.147699C>T , LRG_162:g.147699C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697603.1:c.2199C>T | ENSP00000513358.1:p.Asp733= | |
| ENST00000697607.1:n.1054C>T | ||
| ENST00000314191.7:c.9522C>T MANE Select | ENSP00000313420.3:p.Asp3174= | |
| ENST00000314191.6:c.9522C>T | ENSP00000313420.3:p.Asp3174= | |
| ENST00000338368.7:c.9522C>T | ENSP00000345182.4:p.Asp3174= | |
| NM_001081640.1:c.9522C>T | NP_001075109.1:p.Asp3174= | |
| NM_006904.6:c.9522C>T , LRG_162t1:c.9522C>T | NP_008835.5:p.Asp3174= | |
| XM_011517567.1:c.9525C>T | XP_011515869.1:p.Asp3175= | |
| XM_011517568.1:c.9525C>T | XP_011515870.1:p.Asp3175= | |
| NM_001081640.2:c.9522C>T | NP_001075109.1:p.Asp3174= | |
| NM_006904.7:c.9522C>T MANE Select | NP_008835.5:p.Asp3174= |