Linked Data
ClinVar Variation Id:
350786
dbSNP Id:
rs201548788
ExAC:
5:127704909 T / A
gnomAD v2:
5-127704909-T-A
gnomAD v3:
5-128369216-T-A
gnomAD v4:
5-128369216-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128369216T>A , CM000667.2:g.128369216T>A | GRCh38 |
| NC_000005.9:g.127704909T>A , CM000667.1:g.127704909T>A | GRCh37 |
| NC_000005.8:g.127732808T>A | NCBI36 |
| NG_008750.1:g.173827A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2214A>T MANE Select | ENSP00000262464.4:p.Gly738= | |
| ENST00000262464.8:c.2214A>T | ENSP00000262464.4:p.Gly738= | |
| ENST00000508053.5:c.2214A>T | ENSP00000424571.1:p.Gly738= | |
| ENST00000508989.5:c.2115A>T | ENSP00000425596.1:p.Gly705= | |
| ENST00000511489.1:n.435A>T | ||
| ENST00000619499.4:c.2211A>T | ENSP00000482132.1:p.Gly737= | |
| NM_001999.3:c.2214A>T | NP_001990.2:p.Gly738= | |
| XM_017009228.2:c.2061A>T | XP_016864717.1:p.Gly687= | |
| NM_001999.4:c.2214A>T MANE Select | NP_001990.2:p.Gly738= |