Linked Data
dbSNP Id:
rs780387020
ExAC:
9:71679928 A / C
gnomAD v2:
9-71679928-A-C
gnomAD v4:
9-69065012-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69065012A>C , CM000671.2:g.69065012A>C | GRCh38 |
| NC_000009.11:g.71679928A>C , CM000671.1:g.71679928A>C | GRCh37 |
| NC_000009.10:g.70869748A>C | NCBI36 |
| NG_008845.2:g.34450A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377270.8:c.234A>C | ENSP00000366482.4:p.Gln78His | |
| ENST00000484259.3:c.459A>C MANE Select | ENSP00000419243.2:p.Gln153His | |
| ENST00000642330.1:c.384+11752A>C | ENSP00000493770.1:n.384+11752A>C | |
| ENST00000642889.1:c.165+29065A>C | ENSP00000493780.1:n.165+29065A>C | |
| ENST00000643352.1:c.459A>C | ENSP00000496488.1:p.Gln153His | |
| ENST00000643765.1:c.457A>C | ||
| ENST00000644653.1:c.*62A>C | ENSP00000495217.1:n.*62A>C | |
| ENST00000644977.1:c.*184A>C | ENSP00000495651.1:n.*184A>C | |
| ENST00000645088.1:c.*62A>C | ENSP00000495447.1:n.*62A>C | |
| ENST00000646862.1:c.384+11752A>C | ENSP00000494599.1:n.384+11752A>C | |
| ENST00000377270.7:c.459A>C | ENSP00000366482.3:p.Gln153His | |
| ENST00000396364.7:c.459A>C | ENSP00000379650.3:p.Gln153His | |
| ENST00000396366.6:c.459A>C | ENSP00000379652.2:p.Gln153His | |
| ENST00000484259.1:c.151A>C | ||
| ENST00000498653.5:c.234A>C | ENSP00000418015.1:p.Gln78His | |
| NM_000144.4:c.459A>C | NP_000135.2:p.Gln153His | |
| NM_001161706.1:c.459A>C | NP_001155178.1:p.Gln153His | |
| NM_181425.2:c.459A>C | NP_852090.1:p.Gln153His | |
| NM_000144.5:c.459A>C MANE Select | NP_000135.2:p.Gln153His | |
| NM_181425.3:c.459A>C | NP_852090.1:p.Gln153His |