Linked Data
dbSNP Id:
rs777116808
ExAC:
12:112926958 G / C
gnomAD v2:
12-112926958-G-C
gnomAD v4:
12-112489154-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489154G>C , CM000674.2:g.112489154G>C | GRCh38 |
| NC_000012.11:g.112926958G>C , CM000674.1:g.112926958G>C | GRCh37 |
| NC_000012.10:g.111411341G>C | NCBI36 |
| NG_007459.1:g.75423G>C , LRG_614:g.75423G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1578G>C | ENSP00000491593.2:p.Gln526His | |
| ENST00000685487.1:c.1578G>C | ENSP00000508503.1:p.Gln526His | |
| ENST00000687624.1:n.243G>C | ||
| ENST00000687906.1:c.1464G>C | ENSP00000509536.1:p.Gln488His | |
| ENST00000688597.1:c.1224+6949G>C | ENSP00000510628.1:n.1224+6949G>C | |
| ENST00000688701.1:n.822G>C | ||
| ENST00000690210.1:c.1578G>C | ENSP00000509272.1:p.Gln526His | |
| ENST00000690472.1:n.787G>C | ||
| ENST00000692624.1:c.*124G>C | ENSP00000508953.1:n.*124G>C | |
| ENST00000351677.7:c.1578G>C MANE Select | ENSP00000340944.3:p.Gln526His | |
| ENST00000351677.6:c.1578G>C | ENSP00000340944.2:p.Gln526His | |
| ENST00000635625.1:c.1590G>C | ENSP00000489597.1:p.Gln530His | |
| NM_002834.3:c.1578G>C , LRG_614t1:c.1578G>C | NP_002825.3:p.Gln526His | |
| XM_006719526.1:c.1590G>C | XP_006719589.1:p.Gln530His | |
| XM_006719527.1:c.1476G>C | XP_006719590.1:p.Gln492His | |
| XM_011538613.1:c.1587G>C | XP_011536915.1:p.Gln529His | |
| NM_001330437.1:c.1590G>C | NP_001317366.1:p.Gln530His | |
| NM_002834.4:c.1578G>C | NP_002825.3:p.Gln526His | |
| XM_011538613.2:c.1587G>C | XP_011536915.1:p.Gln529His | |
| XM_017019722.1:c.1575G>C | XP_016875211.1:p.Gln525His | |
| NM_001330437.2:c.1590G>C | NP_001317366.1:p.Gln530His | |
| NM_001374625.1:c.1575G>C | NP_001361554.1:p.Gln525His | |
| NM_002834.5:c.1578G>C MANE Select | NP_002825.3:p.Gln526His |