Linked Data
ClinVar Variation Id:
411817
dbSNP Id:
rs751400994
ExAC:
5:127666282 T / A
gnomAD v2:
5-127666282-T-A
gnomAD v3:
5-128330590-T-A
gnomAD v4:
5-128330590-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128330590T>A , CM000667.2:g.128330590T>A | GRCh38 |
| NC_000005.9:g.127666282T>A , CM000667.1:g.127666282T>A | GRCh37 |
| NC_000005.8:g.127694181T>A | NCBI36 |
| NG_008750.1:g.212454A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1112A>T | ||
| ENST00000703785.1:n.1193A>T | ||
| ENST00000262464.9:c.4328A>T MANE Select | ENSP00000262464.4:p.Asp1443Val | |
| ENST00000262464.8:c.4328A>T | ENSP00000262464.4:p.Asp1443Val | |
| ENST00000507835.5:c.878A>T | ENSP00000426839.1:p.Asp293Val | |
| ENST00000508053.5:c.4328A>T | ENSP00000424571.1:p.Asp1443Val | |
| ENST00000508989.5:c.4229A>T | ENSP00000425596.1:p.Asp1410Val | |
| ENST00000619499.4:c.4325A>T | ENSP00000482132.1:p.Asp1442Val | |
| NM_001999.3:c.4328A>T | NP_001990.2:p.Asp1443Val | |
| XM_017009228.2:c.4175A>T | XP_016864717.1:p.Asp1392Val | |
| NM_001999.4:c.4328A>T MANE Select | NP_001990.2:p.Asp1443Val |