Linked Data
ClinVar Variation Id:
518537
dbSNP Id:
rs139608070
ExAC:
7:81593384 G / C
gnomAD v2:
7-81593384-G-C
gnomAD v3:
7-81964068-G-C
gnomAD v4:
7-81964068-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81964068G>C , CM000669.2:g.81964068G>C | GRCh38 |
| NC_000007.13:g.81593384G>C , CM000669.1:g.81593384G>C | GRCh37 |
| NC_000007.12:g.81431320G>C | NCBI36 |
| NG_009358.2:g.484648C>G , LRG_437:g.484648C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443883.2:c.2804C>G | ENSP00000409374.2:p.Thr935Ser | |
| ENST00000705961.1:c.2535C>G | ||
| ENST00000705962.1:c.2648C>G | ENSP00000516190.1:p.Thr883Ser | |
| ENST00000356860.8:c.2768C>G MANE Select | ENSP00000349320.3:p.Thr923Ser | |
| ENST00000356253.9:c.2804C>G | ENSP00000348589.5:p.Thr935Ser | |
| ENST00000356860.7:c.2768C>G | ENSP00000349320.3:p.Thr923Ser | |
| ENST00000469297.1:n.215C>G | ||
| NM_000722.3:c.2768C>G | NP_000713.2:p.Thr923Ser | |
| XM_005250570.1:c.2804C>G | XP_005250627.1:p.Thr935Ser | |
| XM_005250572.1:c.2753C>G | XP_005250629.1:p.Thr918Ser | |
| XM_005250573.1:c.2747C>G | XP_005250630.1:p.Thr916Ser | |
| XM_005250574.1:c.2732C>G | XP_005250631.1:p.Thr911Ser | |
| XM_006716118.1:c.2825C>G | XP_006716181.1:p.Thr942Ser | |
| XM_006716119.2:c.2750C>G | XP_006716182.1:p.Thr917Ser | |
| XM_006716120.2:c.2708C>G | XP_006716183.1:p.Thr903Ser | |
| XM_006716121.2:c.1235C>G | XP_006716184.1:p.Thr412Ser | |
| XM_011516570.1:c.2825C>G | XP_011514872.1:p.Thr942Ser | |
| XM_011516571.1:c.2810C>G | XP_011514873.1:p.Thr937Ser | |
| XM_011516572.1:c.2789C>G | XP_011514874.1:p.Thr930Ser | |
| XM_011516573.1:c.2594C>G | XP_011514875.1:p.Thr865Ser | |
| NM_001366867.1:c.2804C>G | NP_001353796.1:p.Thr935Ser | |
| XM_005250572.3:c.2753C>G | XP_005250629.1:p.Thr918Ser | |
| XM_005250573.3:c.2747C>G | XP_005250630.1:p.Thr916Ser | |
| XM_005250574.3:c.2732C>G | XP_005250631.1:p.Thr911Ser | |
| XM_006716118.3:c.2825C>G | XP_006716181.1:p.Thr942Ser | |
| XM_006716119.3:c.2750C>G | XP_006716182.1:p.Thr917Ser | |
| XM_006716120.3:c.2708C>G | XP_006716183.1:p.Thr903Ser | |
| XM_006716121.3:c.1235C>G | XP_006716184.1:p.Thr412Ser | |
| XM_011516570.3:c.2825C>G | XP_011514872.1:p.Thr942Ser | |
| XM_011516571.3:c.2810C>G | XP_011514873.1:p.Thr937Ser | |
| XM_011516572.3:c.2789C>G | XP_011514874.1:p.Thr930Ser | |
| XM_017012588.1:c.2651C>G | XP_016868077.1:p.Thr884Ser | |
| XR_001744874.2:n.2561C>G | ||
| NM_000722.4:c.2768C>G MANE Select | NP_000713.2:p.Thr923Ser |