Linked Data
ClinVar Variation Id:
2385799
dbSNP Id:
rs140981222
ExAC:
9:3856011 T / G
gnomAD v2:
9-3856011-T-G
gnomAD v3:
9-3856011-T-G
gnomAD v4:
9-3856011-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.3856011T>G , CM000671.2:g.3856011T>G | GRCh38 |
| NC_000009.11:g.3856011T>G , CM000671.1:g.3856011T>G | GRCh37 |
| NC_000009.10:g.3846011T>G | NCBI36 |
| NG_011782.1:g.449025A>C | |
| NG_011782.2:g.449025A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464391.2:n.1029A>C | ||
| ENST00000491889.6:c.*1834A>C | ENSP00000419914.1:n.*1834A>C | |
| ENST00000645252.2:n.913A>C | ||
| ENST00000682749.1:c.2006A>C | ENSP00000507306.1:p.His669Pro | |
| ENST00000682846.1:c.132-26519A>C | ENSP00000507527.1:n.132-26519A>C | |
| ENST00000682864.1:n.970A>C | ||
| ENST00000381971.8:c.2471A>C MANE Select | ENSP00000371398.3:p.His824Pro | |
| ENST00000645252.1:n.913A>C | ||
| ENST00000324333.14:c.2006A>C | ENSP00000325494.10:p.His669Pro | |
| ENST00000381971.7:c.2471A>C | ENSP00000371398.3:p.His824Pro | |
| ENST00000461870.5:n.827A>C | ||
| ENST00000467497.6:n.1011A>C | ||
| NM_001042413.1:c.2471A>C | NP_001035878.1:p.His824Pro | |
| NM_152629.3:c.2006A>C | NP_689842.3:p.His669Pro | |
| XM_005251386.3:c.2006A>C | XP_005251443.1:p.His669Pro | |
| XM_005251387.3:c.1805A>C | XP_005251444.1:p.His602Pro | |
| XM_005251388.3:c.1805A>C | XP_005251445.1:p.His602Pro | |
| XM_011517763.1:c.2471A>C | XP_011516065.1:p.His824Pro | |
| XM_011517764.1:c.2471A>C | XP_011516066.1:p.His824Pro | |
| XM_011517765.1:c.2471A>C | XP_011516067.1:p.His824Pro | |
| XM_011517766.1:c.2006A>C | XP_011516068.1:p.His669Pro | |
| XM_011517767.1:c.1805A>C | XP_011516069.1:p.His602Pro | |
| XM_005251386.4:c.2006A>C | XP_005251443.1:p.His669Pro | |
| XM_005251387.4:c.1805A>C | XP_005251444.1:p.His602Pro | |
| XM_005251388.4:c.1805A>C | XP_005251445.1:p.His602Pro | |
| XM_011517763.2:c.2471A>C | XP_011516065.1:p.His824Pro | |
| XM_011517764.2:c.2471A>C | XP_011516066.1:p.His824Pro | |
| XM_011517765.2:c.2471A>C | XP_011516067.1:p.His824Pro | |
| XM_011517766.2:c.2006A>C | XP_011516068.1:p.His669Pro | |
| XM_011517767.3:c.1805A>C | XP_011516069.1:p.His602Pro | |
| XM_017014361.1:c.2006A>C | XP_016869850.1:p.His669Pro | |
| NM_001042413.2:c.2471A>C MANE Select | NP_001035878.1:p.His824Pro | |
| NM_152629.4:c.2006A>C | NP_689842.3:p.His669Pro |