Linked Data
ClinVar Variation Id:
1014859
dbSNP Id:
rs1684141729
gnomAD v3:
2-96253867-A-G
gnomAD v4:
2-96253867-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96253867A>G , CM000664.2:g.96253867A>G | GRCh38 |
| NC_000002.11:g.96919605A>G , CM000664.1:g.96919605A>G | GRCh37 |
| NC_000002.10:g.96283332A>G | NCBI36 |
| NG_027695.1:g.17147T>C , LRG_528:g.17147T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.658T>C MANE Select | ENSP00000258439.3:p.Tyr220His | |
| ENST00000258439.7:c.658T>C | ENSP00000258439.2:p.Tyr220His | |
| ENST00000432959.1:c.658T>C | ENSP00000416660.1:p.Tyr220His | |
| ENST00000435268.1:c.406T>C | ENSP00000411810.1:p.Tyr136His | |
| NM_001193304.2:c.658T>C | NP_001180233.1:p.Tyr220His | |
| NM_017849.3:c.658T>C , LRG_528t1:c.658T>C | NP_060319.1:p.Tyr220His | |
| XM_017004450.1:c.-261T>C | XP_016859939.1:n.-261T>C | |
| XM_017004452.1:c.406T>C | XP_016859941.1:p.Tyr136His | |
| NM_001193304.3:c.658T>C | NP_001180233.1:p.Tyr220His | |
| NM_017849.4:c.658T>C MANE Select | NP_060319.1:p.Tyr220His |