Linked Data
ClinVar Variation Id:
1944469
ClinVar RCV Id:
RCV002663178
dbSNP Id:
rs371643533
ExAC:
2:45236079 G / A
gnomAD v2:
2-45236079-G-A
gnomAD v3:
2-45008940-G-A
gnomAD v4:
2-45008940-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.45008940G>A , CM000664.2:g.45008940G>A | GRCh38 |
| NC_000002.11:g.45236079G>A , CM000664.1:g.45236079G>A | GRCh37 |
| NC_000002.10:g.45089583G>A | NCBI36 |
| NG_009360.1:g.5464C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303077.7:c.171C>T MANE Select | ENSP00000304502.6:p.Ala57= | |
| ENST00000303077.6:c.171C>T | ENSP00000304502.6:p.Ala57= | |
| NM_016932.4:c.171C>T | NP_058628.3:p.Ala57= | |
| XM_005264100.2:c.171C>T | XP_005264157.1:p.Ala57= | |
| XM_005264100.3:c.171C>T | XP_005264157.1:p.Ala57= | |
| NM_016932.5:c.171C>T MANE Select | NP_058628.3:p.Ala57= |