Linked Data
ClinVar Variation Id:
136730
ClinVar RCV Id:
RCV000124248
RCV000259368
RCV000319253
RCV000354431
RCV000472139
RCV000267777
RCV001276489
RCV000322977
RCV002294038
RCV001812002
dbSNP Id:
rs79644671
ExAC:
12:88473986 T / C
gnomAD v2:
12-88473986-T-C
gnomAD v3:
12-88080209-T-C
gnomAD v4:
12-88080209-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88080209T>C , CM000674.2:g.88080209T>C | GRCh38 |
| NC_000012.11:g.88473986T>C , CM000674.1:g.88473986T>C | GRCh37 |
| NC_000012.10:g.86998117T>C | NCBI36 |
| NG_008417.1:g.67008A>G | |
| NG_008417.2:g.67008A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.5199A>G | ENSP00000308021.8:p.Gln1733= | |
| ENST00000547691.8:c.2483A>G | ||
| ENST00000552810.6:c.5199A>G MANE Select | ENSP00000448012.1:p.Gln1733= | |
| ENST00000672414.2:c.*3370A>G | ENSP00000500729.1:n.*3370A>G | |
| ENST00000672647.1:n.3559A>G | ||
| ENST00000673058.2:c.5199A>G | ENSP00000500665.2:p.Gln1733= | |
| ENST00000674971.1:c.5199A>G | ENSP00000502194.1:p.Gln1733= | |
| ENST00000675230.1:c.5178A>G | ENSP00000502503.1:p.Gln1726= | |
| ENST00000675408.1:c.5199A>G | ENSP00000502298.1:p.Gln1733= | |
| ENST00000675476.1:c.6060A>G | ENSP00000502161.1:p.Gln2020= | |
| ENST00000675628.1:n.5426A>G | ||
| ENST00000675794.1:c.*3370A>G | ENSP00000502841.1:n.*3370A>G | |
| ENST00000675833.1:c.5967A>G | ENSP00000502559.1:p.Gln1989= | |
| ENST00000675894.1:n.1504A>G | ||
| ENST00000676074.1:c.5199A>G | ENSP00000502079.1:p.Gln1733= | |
| ENST00000676181.1:n.4127A>G | ||
| ENST00000676363.1:n.10925A>G | ||
| ENST00000676448.1:c.*3112A>G | ENSP00000501987.1:n.*3112A>G | |
| ENST00000309041.11:c.5205A>G | ENSP00000308021.7:p.Gln1735= | |
| ENST00000547691.6:c.2379A>G | ENSP00000446905.1:p.Gln793= | |
| ENST00000552810.5:c.5199A>G | ENSP00000448012.1:p.Gln1733= | |
| NM_025114.3:c.5199A>G | NP_079390.3:p.Gln1733= | |
| XM_011538756.1:c.6060A>G | XP_011537058.1:p.Gln2020= | |
| XM_011538757.1:c.6060A>G | XP_011537059.1:p.Gln2020= | |
| XM_011538758.1:c.6060A>G | XP_011537060.1:p.Gln2020= | |
| XM_011538759.1:c.6060A>G | XP_011537061.1:p.Gln2020= | |
| XM_011538760.1:c.6060A>G | XP_011537062.1:p.Gln2020= | |
| XM_011538761.1:c.6060A>G | XP_011537063.1:p.Gln2020= | |
| XM_011538762.1:c.5292A>G | XP_011537064.1:p.Gln1764= | |
| XM_011538763.1:c.5199A>G | XP_011537065.1:p.Gln1733= | |
| XM_011538764.1:c.6060A>G | XP_011537066.1:p.Gln2020= | |
| XM_011538765.1:c.6060A>G | XP_011537067.1:p.Gln2020= | |
| XM_011538766.1:c.4521A>G | XP_011537068.1:p.Gln1507= | |
| XR_945163.1:n.968-2104T>C | ||
| XM_011538756.3:c.6060A>G | XP_011537058.1:p.Gln2020= | |
| XM_011538757.3:c.6060A>G | XP_011537059.1:p.Gln2020= | |
| XM_011538758.3:c.6060A>G | XP_011537060.1:p.Gln2020= | |
| XM_011538759.2:c.6060A>G | XP_011537061.1:p.Gln2020= | |
| XM_011538760.2:c.6060A>G | XP_011537062.1:p.Gln2020= | |
| XM_011538761.2:c.6060A>G | XP_011537063.1:p.Gln2020= | |
| XM_011538762.3:c.5292A>G | XP_011537064.1:p.Gln1764= | |
| XM_011538763.3:c.5199A>G | XP_011537065.1:p.Gln1733= | |
| XM_011538764.3:c.6060A>G | XP_011537066.1:p.Gln2020= | |
| XM_011538765.3:c.6060A>G | XP_011537067.1:p.Gln2020= | |
| XM_011538766.3:c.4521A>G | XP_011537068.1:p.Gln1507= | |
| XM_017019980.2:c.6060A>G | XP_016875469.1:p.Gln2020= | |
| XM_017019981.2:c.6060A>G | XP_016875470.1:p.Gln2020= | |
| XM_017019982.1:c.6060A>G | XP_016875471.1:p.Gln2020= | |
| XM_017019983.2:c.5178A>G | XP_016875472.1:p.Gln1726= | |
| XR_001748869.1:n.6404A>G | ||
| XR_001748870.2:n.6404A>G | ||
| NM_025114.4:c.5199A>G MANE Select | NP_079390.3:p.Gln1733= |