Linked Data
ClinVar Variation Id:
779408
ClinVar RCV Id:
RCV000960235
dbSNP Id:
rs61748244
ExAC:
2:165358792 G / A
gnomAD v2:
2-165358792-G-A
gnomAD v3:
2-164502282-G-A
gnomAD v4:
2-164502282-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.164502282G>A , CM000664.2:g.164502282G>A | GRCh38 |
| NC_000002.11:g.165358792G>A , CM000664.1:g.165358792G>A | GRCh37 |
| NC_000002.10:g.165067038G>A | NCBI36 |
| NG_052839.1:g.124569C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696453.2:c.816C>T | ENSP00000512640.1:p.Gly272= | |
| ENST00000263915.8:c.1077C>T MANE Select | ENSP00000263915.3:p.Gly359= | |
| ENST00000263915.7:c.1077C>T | ENSP00000263915.3:p.Gly359= | |
| ENST00000446413.6:c.942C>T | ENSP00000416786.2:p.Gly314= | |
| ENST00000488342.5:n.1213C>T | ||
| NM_001303422.1:c.816C>T | NP_001290351.1:p.Gly272= | |
| NM_004490.2:c.1077C>T | NP_004481.2:p.Gly359= | |
| XM_006712457.2:c.477C>T | XP_006712520.1:p.Gly159= | |
| XR_427085.2:n.1299C>T | ||
| XM_017003899.1:c.477C>T | XP_016859388.1:p.Gly159= | |
| XM_024452815.1:c.855C>T | XP_024308583.1:p.Gly285= | |
| XM_024452816.1:c.855C>T | XP_024308584.1:p.Gly285= | |
| XR_427085.3:n.1303C>T | ||
| NM_001303422.2:c.816C>T | NP_001290351.1:p.Gly272= | |
| NM_004490.3:c.1077C>T MANE Select | NP_004481.2:p.Gly359= |