Linked Data
ClinVar Variation Id:
354033
dbSNP Id:
rs779872068
ExAC:
5:60241180 A / G
gnomAD v2:
5-60241180-A-G
gnomAD v4:
5-60945353-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60945353A>G , CM000667.2:g.60945353A>G | GRCh38 |
| NC_000005.9:g.60241180A>G , CM000667.1:g.60241180A>G | GRCh37 |
| NC_000005.8:g.60276937A>G | NCBI36 |
| NG_008978.1:g.5225A>G | |
| NG_009289.1:g.4726T>C , LRG_466:g.4726T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296597.10:c.98A>G MANE Select | ENSP00000296597.5:p.Tyr33Cys | |
| ENST00000677756.1:c.98A>G | ENSP00000503642.1:p.Tyr33Cys | |
| ENST00000677932.1:c.98A>G | ENSP00000504750.1:p.Tyr33Cys | |
| ENST00000678452.1:c.98A>G | ENSP00000504248.1:p.Tyr33Cys | |
| ENST00000296597.9:c.98A>G | ENSP00000296597.5:p.Tyr33Cys | |
| ENST00000502658.1:c.19A>G | ||
| ENST00000511107.1:c.98A>G | ENSP00000423377.1:p.Tyr33Cys | |
| NM_174889.4:c.98A>G | NP_777549.1:p.Tyr33Cys | |
| NM_174889.5:c.98A>G MANE Select | NP_777549.1:p.Tyr33Cys |