Linked Data
ClinVar Variation Id:
946201
ClinVar RCV Id:
RCV001217015
dbSNP Id:
rs1751527556
gnomAD v3:
5-128357385-T-G
gnomAD v4:
5-128357385-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128357385T>G , CM000667.2:g.128357385T>G | GRCh38 |
| NC_000005.9:g.127693077T>G , CM000667.1:g.127693077T>G | GRCh37 |
| NC_000005.8:g.127720976T>G | NCBI36 |
| NG_008750.1:g.185659A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2565A>C MANE Select | ENSP00000262464.4:p.Glu855Asp | |
| ENST00000262464.8:c.2565A>C | ENSP00000262464.4:p.Glu855Asp | |
| ENST00000508053.5:c.2565A>C | ENSP00000424571.1:p.Glu855Asp | |
| ENST00000508989.5:c.2466A>C | ENSP00000425596.1:p.Glu822Asp | |
| ENST00000619499.4:c.2562A>C | ENSP00000482132.1:p.Glu854Asp | |
| NM_001999.3:c.2565A>C | NP_001990.2:p.Glu855Asp | |
| XM_017009228.2:c.2412A>C | XP_016864717.1:p.Glu804Asp | |
| NM_001999.4:c.2565A>C MANE Select | NP_001990.2:p.Glu855Asp |