Linked Data
ClinVar Variation Id:
403982
ClinVar RCV Id:
RCV000475184
dbSNP Id:
rs61751045
ExAC:
8:31030599 G / C
gnomAD v2:
8-31030599-G-C
gnomAD v3:
8-31173083-G-C
gnomAD v4:
8-31173083-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31173083G>C , CM000670.2:g.31173083G>C | GRCh38 |
| NC_000008.10:g.31030599G>C , CM000670.1:g.31030599G>C | GRCh37 |
| NC_000008.9:g.31150141G>C | NCBI36 |
| NG_008870.1:g.144822G>C , LRG_524:g.144822G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.4280G>C MANE Select | ENSP00000298139.5:p.Arg1427Thr | |
| ENST00000650667.1:c.*3894G>C | ENSP00000498593.1:n.*3894G>C | |
| ENST00000651946.1:n.504G>C | ||
| ENST00000298139.5:c.4280G>C | ENSP00000298139.5:p.Arg1427Thr | |
| ENST00000521620.5:n.2913G>C | ||
| NM_000553.4:c.4280G>C , LRG_524t1:c.4280G>C | NP_000544.2:p.Arg1427Thr | |
| XM_011544639.1:c.4199G>C | XP_011542941.1:p.Arg1400Thr | |
| XM_011544640.1:c.2681G>C | XP_011542942.1:p.Arg894Thr | |
| XR_949643.1:n.88-1765C>G | ||
| XR_949644.1:n.88-1765C>G | ||
| XR_949645.1:n.88-1765C>G | ||
| XR_949646.1:n.88-1765C>G | ||
| XR_949647.1:n.701-1765C>G | ||
| XR_949648.1:n.603-1765C>G | ||
| NM_000553.5:c.4280G>C | NP_000544.2:p.Arg1427Thr | |
| XM_011544639.3:c.4199G>C | XP_011542941.1:p.Arg1400Thr | |
| XM_024447265.1:c.4070G>C | XP_024303033.1:p.Arg1357Thr | |
| NM_000553.6:c.4280G>C MANE Select | NP_000544.2:p.Arg1427Thr |