Linked Data
ClinVar Variation Id:
102907
dbSNP Id:
rs62642940
gnomAD v3:
12-102846923-G-T
gnomAD v4:
12-102846923-G-T
ERepo:
CA229867/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846923G>T , CM000674.2:g.102846923G>T | GRCh38 |
| NC_000012.11:g.103240701G>T , CM000674.1:g.103240701G>T | GRCh37 |
| NC_000012.10:g.101764831G>T | NCBI36 |
| NG_008690.1:g.75680C>A | |
| NG_008690.2:g.116488C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.941C>A MANE Select | ENSP00000448059.1:p.Pro314His | |
| ENST00000307000.7:c.926C>A | ENSP00000303500.2:p.Pro309His | |
| ENST00000549247.6:n.700C>A | ||
| ENST00000551114.2:n.603C>A | ||
| ENST00000553106.5:c.941C>A | ENSP00000448059.1:p.Pro314His | |
| ENST00000635477.1:c.74-2492C>A | ||
| ENST00000635528.1:n.456C>A | ||
| NM_000277.1:c.941C>A | NP_000268.1:p.Pro314His | |
| XM_011538422.1:c.913-2492C>A | XP_011536724.1:n.913-2492C>A | |
| NM_000277.2:c.941C>A | NP_000268.1:p.Pro314His | |
| NM_001354304.1:c.941C>A | NP_001341233.1:p.Pro314His | |
| NM_000277.3:c.941C>A MANE Select | NP_000268.1:p.Pro314His | |
| NM_001354304.2:c.941C>A | NP_001341233.1:p.Pro314His |