Linked Data
ClinVar Variation Id:
350775
dbSNP Id:
rs767644891
ExAC:
5:127671242 C / T
gnomAD v2:
5-127671242-C-T
gnomAD v3:
5-128335550-C-T
gnomAD v4:
5-128335550-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335550C>T , CM000667.2:g.128335550C>T | GRCh38 |
| NC_000005.9:g.127671242C>T , CM000667.1:g.127671242C>T | GRCh37 |
| NC_000005.8:g.127699141C>T | NCBI36 |
| NG_008750.1:g.207494G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703783.1:n.536G>A | ||
| ENST00000703785.1:n.617G>A | ||
| ENST00000262464.9:c.3752G>A MANE Select | ENSP00000262464.4:p.Gly1251Glu | |
| ENST00000262464.8:c.3752G>A | ENSP00000262464.4:p.Gly1251Glu | |
| ENST00000507835.5:c.302G>A | ENSP00000426839.1:p.Gly101Glu | |
| ENST00000508053.5:c.3752G>A | ENSP00000424571.1:p.Gly1251Glu | |
| ENST00000508989.5:c.3653G>A | ENSP00000425596.1:p.Gly1218Glu | |
| ENST00000619499.4:c.3749G>A | ENSP00000482132.1:p.Gly1250Glu | |
| NM_001999.3:c.3752G>A | NP_001990.2:p.Gly1251Glu | |
| XM_017009228.2:c.3599G>A | XP_016864717.1:p.Gly1200Glu | |
| NM_001999.4:c.3752G>A MANE Select | NP_001990.2:p.Gly1251Glu |