Linked Data
ClinVar Variation Id:
528439
dbSNP Id:
rs772832233
ExAC:
5:127626431 G / A
gnomAD v2:
5-127626431-G-A
gnomAD v3:
5-128290739-G-A
gnomAD v4:
5-128290739-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128290739G>A , CM000667.2:g.128290739G>A | GRCh38 |
| NC_000005.9:g.127626431G>A , CM000667.1:g.127626431G>A | GRCh37 |
| NC_000005.8:g.127654330G>A | NCBI36 |
| NG_008750.1:g.252305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.3222C>T | ||
| ENST00000703785.1:n.3141C>T | ||
| ENST00000262464.9:c.6438C>T MANE Select | ENSP00000262464.4:p.Asp2146= | |
| ENST00000262464.8:c.6438C>T | ENSP00000262464.4:p.Asp2146= | |
| ENST00000508053.5:c.6438C>T | ENSP00000424571.1:p.Asp2146= | |
| ENST00000619499.4:c.6435C>T | ENSP00000482132.1:p.Asp2145= | |
| NM_001999.3:c.6438C>T | NP_001990.2:p.Asp2146= | |
| XM_017009228.2:c.6285C>T | XP_016864717.1:p.Asp2095= | |
| NM_001999.4:c.6438C>T MANE Select | NP_001990.2:p.Asp2146= |