Linked Data
dbSNP Id:
rs768083890
ExAC:
7:100231064 A / G
gnomAD v2:
7-100231064-A-G
gnomAD v3:
7-100633441-A-G
gnomAD v4:
7-100633441-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633441A>G , CM000669.2:g.100633441A>G | GRCh38 |
| NC_000007.13:g.100231064A>G , CM000669.1:g.100231064A>G | GRCh37 |
| NC_000007.12:g.100069000A>G | NCBI36 |
| NG_007989.1:g.13110T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.589T>C MANE Select | ENSP00000223051.3:p.Tyr197His | |
| ENST00000223051.7:c.589T>C | ENSP00000223051.3:p.Tyr197His | |
| ENST00000431692.5:c.589T>C | ENSP00000413905.1:p.Tyr197His | |
| ENST00000462107.1:c.589T>C | ENSP00000420525.1:p.Tyr197His | |
| ENST00000465294.5:n.594T>C | ||
| ENST00000475011.1:n.118T>C | ||
| ENST00000476304.5:n.210T>C | ||
| NM_001206855.1:c.76T>C | NP_001193784.1:p.Tyr26His | |
| NM_003227.3:c.589T>C | NP_003218.2:p.Tyr197His | |
| XM_005250553.3:c.589T>C | XP_005250610.1:p.Tyr197His | |
| XM_005250554.3:c.589T>C | XP_005250611.1:p.Tyr197His | |
| NM_001206855.2:c.76T>C | NP_001193784.1:p.Tyr26His | |
| XM_005250553.4:c.589T>C | XP_005250610.1:p.Tyr197His | |
| XM_017012573.1:c.589T>C | XP_016868062.1:p.Tyr197His | |
| NM_003227.4:c.589T>C MANE Select | NP_003218.2:p.Tyr197His | |
| NM_001206855.3:c.76T>C | NP_001193784.1:p.Tyr26His |