Linked Data
dbSNP Id:
rs769722097
ExAC:
16:1412046 C / G
gnomAD v2:
16-1412046-C-G
gnomAD v3:
16-1362045-C-G
gnomAD v4:
16-1362045-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362045C>G , CM000678.2:g.1362045C>G | GRCh38 |
| NC_000016.9:g.1412046C>G , CM000678.1:g.1412046C>G | GRCh37 |
| NC_000016.8:g.1352047C>G | NCBI36 |
| NG_016985.1:g.15147C>G | |
| NG_033129.1:g.57660G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.424C>G | ||
| ENST00000529110.2:c.409C>G | ENSP00000435349.2:p.His137Asp | |
| ENST00000529957.6:n.383C>G | ||
| ENST00000683366.1:c.*57C>G | ENSP00000507283.1:n.*57C>G | |
| ENST00000683887.1:c.373C>G | ENSP00000506886.1:p.His125Asp | |
| ENST00000684100.1:n.319C>G | ||
| ENST00000684126.1:n.383C>G | ||
| ENST00000684688.1:n.950C>G | ||
| ENST00000204679.9:c.325C>G MANE Select | ENSP00000204679.4:p.His109Asp | |
| ENST00000204679.8:c.325C>G | ENSP00000204679.4:p.His109Asp | |
| ENST00000526820.5:c.*227C>G | ENSP00000434413.1:n.*227C>G | |
| ENST00000527076.1:n.1341C>G | ||
| ENST00000527168.5:n.361C>G | ||
| ENST00000529110.1:c.392C>G | ||
| ENST00000529957.5:n.424C>G | ||
| NM_032520.4:c.325C>G | NP_115909.1:p.His109Asp | |
| XM_017023782.1:c.373C>G | XP_016879271.1:p.His125Asp | |
| XM_017023783.1:c.-36C>G | XP_016879272.1:n.-36C>G | |
| NM_032520.5:c.325C>G MANE Select | NP_115909.1:p.His109Asp |