Linked Data
ClinVar Variation Id:
772770
dbSNP Id:
rs202185816
ExAC:
1:68897064 G / A
gnomAD v2:
1-68897064-G-A
gnomAD v3:
1-68431381-G-A
gnomAD v4:
1-68431381-G-A
ERepo:
CA902225/MONDO:0100368/120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431381G>A , CM000663.2:g.68431381G>A | GRCh38 |
| NC_000001.10:g.68897064G>A , CM000663.1:g.68897064G>A | GRCh37 |
| NC_000001.9:g.68669652G>A | NCBI36 |
| NG_008472.1:g.23579C>T | |
| NG_008472.2:g.23579C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1244-5C>T MANE Select | ENSP00000262340.5:n.1244-5C>T | |
| ENST00000262340.5:c.1244-5C>T | ENSP00000262340.5:n.1244-5C>T | |
| NM_000329.2:c.1244-5C>T | NP_000320.1:n.1244-5C>T | |
| XM_017002027.1:c.968-5C>T | XP_016857516.1:n.968-5C>T | |
| NM_000329.3:c.1244-5C>T MANE Select | NP_000320.1:n.1244-5C>T |