Linked Data
ClinVar Variation Id:
1056342
dbSNP Id:
rs371512923
ExAC:
5:127670973 C / T
gnomAD v2:
5-127670973-C-T
gnomAD v3:
5-128335281-C-T
gnomAD v4:
5-128335281-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335281C>T , CM000667.2:g.128335281C>T | GRCh38 |
| NC_000005.9:g.127670973C>T , CM000667.1:g.127670973C>T | GRCh37 |
| NC_000005.8:g.127698872C>T | NCBI36 |
| NG_008750.1:g.207763G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.646G>A | ||
| ENST00000703785.1:n.727G>A | ||
| ENST00000262464.9:c.3862G>A MANE Select | ENSP00000262464.4:p.Glu1288Lys | |
| ENST00000262464.8:c.3862G>A | ENSP00000262464.4:p.Glu1288Lys | |
| ENST00000507835.5:c.412G>A | ENSP00000426839.1:p.Glu138Lys | |
| ENST00000508053.5:c.3862G>A | ENSP00000424571.1:p.Glu1288Lys | |
| ENST00000508989.5:c.3763G>A | ENSP00000425596.1:p.Glu1255Lys | |
| ENST00000619499.4:c.3859G>A | ENSP00000482132.1:p.Glu1287Lys | |
| NM_001999.3:c.3862G>A | NP_001990.2:p.Glu1288Lys | |
| XM_017009228.2:c.3709G>A | XP_016864717.1:p.Glu1237Lys | |
| NM_001999.4:c.3862G>A MANE Select | NP_001990.2:p.Glu1288Lys |