Linked Data
ClinVar Variation Id:
263934
dbSNP Id:
rs138429045
gnomAD v2:
5-127686595-G-T
gnomAD v3:
5-128350903-G-T
gnomAD v4:
5-128350903-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128350903G>T , CM000667.2:g.128350903G>T | GRCh38 |
| NC_000005.9:g.127686595G>T , CM000667.1:g.127686595G>T | GRCh37 |
| NC_000005.8:g.127714494G>T | NCBI36 |
| NG_008750.1:g.192141C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2777C>A MANE Select | ENSP00000262464.4:p.Ala926Asp | |
| ENST00000262464.8:c.2777C>A | ENSP00000262464.4:p.Ala926Asp | |
| ENST00000508053.5:c.2777C>A | ENSP00000424571.1:p.Ala926Asp | |
| ENST00000508989.5:c.2678C>A | ENSP00000425596.1:p.Ala893Asp | |
| ENST00000619499.4:c.2774C>A | ENSP00000482132.1:p.Ala925Asp | |
| NM_001999.3:c.2777C>A | NP_001990.2:p.Ala926Asp | |
| XM_017009228.2:c.2624C>A | XP_016864717.1:p.Ala875Asp | |
| NM_001999.4:c.2777C>A MANE Select | NP_001990.2:p.Ala926Asp |