Linked Data
ClinVar Variation Id:
437815
ClinVar RCV Id:
RCV000503359
dbSNP Id:
rs746650044
ExAC:
6:99322241 G / A
gnomAD v2:
6-99322241-G-A
gnomAD v4:
6-98874365-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98874365G>A , CM000668.2:g.98874365G>A | GRCh38 |
| NC_000006.11:g.99322241G>A , CM000668.1:g.99322241G>A | GRCh37 |
| NC_000006.10:g.99428962G>A | NCBI36 |
| NG_033903.1:g.78642C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1779C>T MANE Select | ENSP00000358247.1:p.Ser593= | |
| ENST00000229971.2:c.1779C>T | ENSP00000229971.1:p.Ser593= | |
| ENST00000369244.6:c.1779C>T | ENSP00000358247.1:p.Ser593= | |
| NM_001278716.1:c.1779C>T | NP_001265645.1:p.Ser593= | |
| NM_012160.4:c.1779C>T | NP_036292.2:p.Ser593= | |
| NR_103836.1:n.1824C>T | ||
| XM_005266930.1:c.1707C>T | XP_005266987.1:p.Ser569= | |
| XM_005266930.3:c.1707C>T | XP_005266987.1:p.Ser569= | |
| XM_017010726.1:c.1779C>T | XP_016866215.1:p.Ser593= | |
| XM_017010727.2:c.1707C>T | XP_016866216.1:p.Ser569= | |
| XM_017010728.1:c.1053C>T | XP_016866217.1:p.Ser351= | |
| NM_001278716.2:c.1779C>T MANE Select | NP_001265645.1:p.Ser593= | |
| NR_103836.2:n.1764C>T | ||
| NM_012160.5:c.1779C>T | NP_036292.2:p.Ser593= |