Linked Data
ClinVar Variation Id:
1716979
ClinVar RCV Id:
RCV002296176
dbSNP Id:
rs768977643
ExAC:
9:3856107 G / C
gnomAD v2:
9-3856107-G-C
gnomAD v4:
9-3856107-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.3856107G>C , CM000671.2:g.3856107G>C | GRCh38 |
| NC_000009.11:g.3856107G>C , CM000671.1:g.3856107G>C | GRCh37 |
| NC_000009.10:g.3846107G>C | NCBI36 |
| NG_011782.1:g.448929C>G | |
| NG_011782.2:g.448929C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464391.2:n.933C>G | ||
| ENST00000491889.6:c.*1738C>G | ENSP00000419914.1:n.*1738C>G | |
| ENST00000645252.2:n.817C>G | ||
| ENST00000682749.1:c.1910C>G | ENSP00000507306.1:p.Thr637Arg | |
| ENST00000682846.1:c.132-26615C>G | ENSP00000507527.1:n.132-26615C>G | |
| ENST00000682864.1:n.874C>G | ||
| ENST00000381971.8:c.2375C>G MANE Select | ENSP00000371398.3:p.Thr792Arg | |
| ENST00000645252.1:n.817C>G | ||
| ENST00000324333.14:c.1910C>G | ENSP00000325494.10:p.Thr637Arg | |
| ENST00000381971.7:c.2375C>G | ENSP00000371398.3:p.Thr792Arg | |
| ENST00000461870.5:n.731C>G | ||
| ENST00000467497.6:n.915C>G | ||
| NM_001042413.1:c.2375C>G | NP_001035878.1:p.Thr792Arg | |
| NM_152629.3:c.1910C>G | NP_689842.3:p.Thr637Arg | |
| XM_005251386.3:c.1910C>G | XP_005251443.1:p.Thr637Arg | |
| XM_005251387.3:c.1709C>G | XP_005251444.1:p.Thr570Arg | |
| XM_005251388.3:c.1709C>G | XP_005251445.1:p.Thr570Arg | |
| XM_011517763.1:c.2375C>G | XP_011516065.1:p.Thr792Arg | |
| XM_011517764.1:c.2375C>G | XP_011516066.1:p.Thr792Arg | |
| XM_011517765.1:c.2375C>G | XP_011516067.1:p.Thr792Arg | |
| XM_011517766.1:c.1910C>G | XP_011516068.1:p.Thr637Arg | |
| XM_011517767.1:c.1709C>G | XP_011516069.1:p.Thr570Arg | |
| XM_005251386.4:c.1910C>G | XP_005251443.1:p.Thr637Arg | |
| XM_005251387.4:c.1709C>G | XP_005251444.1:p.Thr570Arg | |
| XM_005251388.4:c.1709C>G | XP_005251445.1:p.Thr570Arg | |
| XM_011517763.2:c.2375C>G | XP_011516065.1:p.Thr792Arg | |
| XM_011517764.2:c.2375C>G | XP_011516066.1:p.Thr792Arg | |
| XM_011517765.2:c.2375C>G | XP_011516067.1:p.Thr792Arg | |
| XM_011517766.2:c.1910C>G | XP_011516068.1:p.Thr637Arg | |
| XM_011517767.3:c.1709C>G | XP_011516069.1:p.Thr570Arg | |
| XM_017014361.1:c.1910C>G | XP_016869850.1:p.Thr637Arg | |
| NM_001042413.2:c.2375C>G MANE Select | NP_001035878.1:p.Thr792Arg | |
| NM_152629.4:c.1910C>G | NP_689842.3:p.Thr637Arg |