Linked Data
ClinVar Variation Id:
354032
dbSNP Id:
rs886060726
gnomAD v3:
5-60945273-T-G
gnomAD v4:
5-60945273-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60945273T>G , CM000667.2:g.60945273T>G | GRCh38 |
| NC_000005.9:g.60241100T>G , CM000667.1:g.60241100T>G | GRCh37 |
| NC_000005.8:g.60276857T>G | NCBI36 |
| NG_008978.1:g.5145T>G | |
| NG_009289.1:g.4806A>C , LRG_466:g.4806A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296597.10:c.18T>G MANE Select | ENSP00000296597.5:p.Asp6Glu | |
| ENST00000677756.1:c.18T>G | ENSP00000503642.1:p.Asp6Glu | |
| ENST00000677932.1:c.18T>G | ENSP00000504750.1:p.Asp6Glu | |
| ENST00000678452.1:c.18T>G | ENSP00000504248.1:p.Asp6Glu | |
| ENST00000296597.9:c.18T>G | ENSP00000296597.5:p.Asp6Glu | |
| ENST00000511107.1:c.18T>G | ENSP00000423377.1:p.Asp6Glu | |
| NM_174889.4:c.18T>G | NP_777549.1:p.Asp6Glu | |
| NM_174889.5:c.18T>G MANE Select | NP_777549.1:p.Asp6Glu |