Linked Data
ClinVar Variation Id:
2968947
ClinVar RCV Id:
RCV003829593
dbSNP Id:
rs748609131
ExAC:
2:223484397 G / A
gnomAD v2:
2-223484397-G-A
gnomAD v3:
2-222619678-G-A
gnomAD v4:
2-222619678-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222619678G>A , CM000664.2:g.222619678G>A | GRCh38 |
| NC_000002.11:g.223484397G>A , CM000664.1:g.223484397G>A | GRCh37 |
| NC_000002.10:g.223192641G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281828.8:c.1311C>T MANE Select | ENSP00000281828.6:p.Val437= | |
| ENST00000281828.6:c.1311C>T | ENSP00000281828.6:p.Val437= | |
| NM_005687.4:c.1311C>T | NP_005678.3:p.Val437= | |
| NR_130154.1:n.1789C>T | ||
| XM_006712169.1:c.1014C>T | XP_006712232.1:p.Val338= | |
| XM_006712170.1:c.1014C>T | XP_006712233.1:p.Val338= | |
| XM_011510466.1:c.1014C>T | XP_011508768.1:p.Val338= | |
| XM_006712169.2:c.1014C>T | XP_006712232.1:p.Val338= | |
| XM_011510466.2:c.1014C>T | XP_011508768.1:p.Val338= | |
| XM_017003110.2:c.1014C>T | XP_016858599.1:p.Val338= | |
| XM_024452492.1:c.1014C>T | XP_024308260.1:p.Val338= | |
| NM_005687.5:c.1311C>T MANE Select | NP_005678.3:p.Val437= | |
| NR_130154.2:n.1526C>T |