Linked Data
dbSNP Id:
rs782667285
ExAC:
7:75614136 T / C
gnomAD v2:
7-75614136-T-C
gnomAD v3:
7-75984818-T-C
gnomAD v4:
7-75984818-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75984818T>C , CM000669.2:g.75984818T>C | GRCh38 |
| NC_000007.13:g.75614136T>C , CM000669.1:g.75614136T>C | GRCh37 |
| NC_000007.12:g.75452072T>C | NCBI36 |
| NG_008930.1:g.74717T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475509.2:c.883T>C | ENSP00000516446.1:p.Tyr295His | |
| ENST00000706544.1:c.1009T>C | ENSP00000516442.1:p.Tyr337His | |
| ENST00000706545.1:c.1108T>C | ENSP00000516443.1:p.Tyr370His | |
| ENST00000706546.1:c.1108T>C | ENSP00000516444.1:p.Tyr370His | |
| ENST00000706547.1:c.1108T>C | ENSP00000516445.1:p.Tyr370His | |
| ENST00000461988.6:c.1108T>C MANE Select | ENSP00000419970.1:p.Tyr370His | |
| ENST00000394893.5:c.1108T>C | ENSP00000378355.1:p.Tyr370His | |
| ENST00000412064.6:c.*108+1182T>C | ENSP00000404731.2:n.*108+1182T>C | |
| ENST00000439269.1:c.322T>C | ENSP00000412490.1:p.Tyr108His | |
| ENST00000447222.5:c.1259T>C | ||
| ENST00000454934.5:c.*413T>C | ENSP00000414263.1:n.*413T>C | |
| ENST00000461988.5:c.1108T>C | ENSP00000419970.1:p.Tyr370His | |
| ENST00000487247.5:n.463T>C | ||
| ENST00000495770.1:n.110T>C | ||
| ENST00000496888.5:n.482T>C | ||
| NM_000941.2:c.1108T>C | NP_000932.3:p.Tyr370His | |
| NM_000941.3:c.1108T>C | NP_000932.3:p.Tyr370His | |
| NM_001367562.1:c.1108T>C | NP_001354491.1:p.Tyr370His | |
| NM_001382655.1:c.1162T>C | NP_001369584.1:p.Tyr388His | |
| NM_001382657.1:c.1108T>C | NP_001369586.1:p.Tyr370His | |
| NM_001382658.1:c.1108T>C | NP_001369587.1:p.Tyr370His | |
| NM_001382659.1:c.1108T>C | NP_001369588.1:p.Tyr370His | |
| NM_001382662.1:c.1108T>C | NP_001369591.1:p.Tyr370His | |
| NM_001367562.3:c.1099T>C | NP_001354491.2:p.Tyr367His | |
| NM_001382655.3:c.1153T>C | NP_001369584.2:p.Tyr385His | |
| NM_001382657.2:c.1099T>C | NP_001369586.2:p.Tyr367His | |
| NM_001382658.3:c.1099T>C | NP_001369587.2:p.Tyr367His | |
| NM_001382659.3:c.1099T>C | NP_001369588.2:p.Tyr367His | |
| NM_001382662.3:c.1099T>C | NP_001369591.2:p.Tyr367His | |
| NM_001395413.1:c.1099T>C MANE Select | NP_001382342.1:p.Tyr367His |