Linked Data
ClinVar Variation Id:
1686865
ClinVar RCV Id:
RCV002248347
dbSNP Id:
rs760695903
ExAC:
11:64031564 G / T
gnomAD v2:
11-64031564-G-T
gnomAD v3:
11-64264092-G-T
gnomAD v4:
11-64264092-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64264092G>T , CM000673.2:g.64264092G>T | GRCh38 |
| NC_000011.9:g.64031564G>T , CM000673.1:g.64031564G>T | GRCh37 |
| NC_000011.8:g.63788140G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279230.12:c.2632G>T MANE Select | ENSP00000279230.6:p.Ala878Ser | |
| ENST00000279230.10:c.2632G>T | ENSP00000279230.6:p.Ala878Ser | |
| ENST00000325234.5:c.2431G>T | ENSP00000324660.5:p.Ala811Ser | |
| ENST00000536243.1:n.395G>T | ||
| ENST00000540288.5:c.2632G>T | ENSP00000443631.1:p.Ala878Ser | |
| NM_000932.2:c.2632G>T | NP_000923.1:p.Ala878Ser | |
| NM_001184883.1:c.2431G>T | NP_001171812.1:p.Ala811Ser | |
| NM_001316314.1:c.2632G>T | NP_001303243.1:p.Ala878Ser | |
| XM_011545101.1:c.2632G>T | XP_011543403.1:p.Ala878Ser | |
| XM_011545101.2:c.2632G>T | XP_011543403.1:p.Ala878Ser | |
| NM_000932.3:c.2632G>T | NP_000923.1:p.Ala878Ser | |
| NM_001184883.2:c.2431G>T | NP_001171812.1:p.Ala811Ser | |
| NM_001316314.2:c.2632G>T | NP_001303243.1:p.Ala878Ser | |
| NM_000932.5:c.2632G>T MANE Select | NP_000923.1:p.Ala878Ser | |
| NM_001316314.3:c.2632G>T | NP_001303243.1:p.Ala878Ser |