Linked Data
ClinVar Variation Id:
102539
dbSNP Id:
rs62517194
gnomAD v4:
12-102843686-A-G
ERepo:
CA229363/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843686A>G , CM000674.2:g.102843686A>G | GRCh38 |
| NC_000012.11:g.103237464A>G , CM000674.1:g.103237464A>G | GRCh37 |
| NC_000012.10:g.101761594A>G | NCBI36 |
| NG_008690.1:g.78917T>C | |
| NG_008690.2:g.119725T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1159T>C MANE Select | ENSP00000448059.1:p.Tyr387His | |
| ENST00000307000.7:c.1144T>C | ENSP00000303500.2:p.Tyr382His | |
| ENST00000549247.6:n.918T>C | ||
| ENST00000551114.2:n.821T>C | ||
| ENST00000553106.5:c.1159T>C | ENSP00000448059.1:p.Tyr387His | |
| ENST00000635477.1:c.263T>C | ||
| ENST00000635528.1:n.674T>C | ||
| NM_000277.1:c.1159T>C | NP_000268.1:p.Tyr387His | |
| XM_011538422.1:c.1102T>C | XP_011536724.1:p.Tyr368His | |
| NM_000277.2:c.1159T>C | NP_000268.1:p.Tyr387His | |
| NM_001354304.1:c.1159T>C | NP_001341233.1:p.Tyr387His | |
| NM_000277.3:c.1159T>C MANE Select | NP_000268.1:p.Tyr387His | |
| NM_001354304.2:c.1159T>C | NP_001341233.1:p.Tyr387His |