Linked Data
dbSNP Id:
rs751743686
ExAC:
6:31827510 A / G
gnomAD v2:
6-31827510-A-G
gnomAD v3:
6-31859733-A-G
gnomAD v4:
6-31859733-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859733A>G , CM000668.2:g.31859733A>G | GRCh38 |
| NC_000006.11:g.31827510A>G , CM000668.1:g.31827510A>G | GRCh37 |
| NC_000006.10:g.31935489A>G | NCBI36 |
| NG_008201.1:g.8200T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.1234T>C MANE Select | ENSP00000364782.4:p.Tyr412His | |
| ENST00000677054.1:n.2573T>C | ||
| ENST00000677512.1:n.1511T>C | ||
| ENST00000678869.1:n.1822T>C | ||
| ENST00000375631.4:c.1234T>C | ENSP00000364782.4:p.Tyr412His | |
| ENST00000480384.1:n.1533T>C | ||
| ENST00000491768.5:c.*344T>C | ENSP00000433127.1:n.*344T>C | |
| ENST00000495807.1:n.2542T>C | ||
| NM_000434.3:c.1234T>C | NP_000425.1:p.Tyr412His | |
| NM_000434.4:c.1234T>C MANE Select | NP_000425.1:p.Tyr412His |