Linked Data
ClinVar Variation Id:
120265
ClinVar RCV Id:
RCV000106346
dbSNP Id:
rs281865437
ExAC:
12:103234253 A / G
gnomAD v2:
12-103234253-A-G
gnomAD v3:
12-102840475-A-G
gnomAD v4:
12-102840475-A-G
ERepo:
CA267637/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840475A>G , CM000674.2:g.102840475A>G | GRCh38 |
| NC_000012.11:g.103234253A>G , CM000674.1:g.103234253A>G | GRCh37 |
| NC_000012.10:g.101758383A>G | NCBI36 |
| NG_008690.1:g.82128T>C | |
| NG_008690.2:g.122936T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1240T>C MANE Select | ENSP00000448059.1:p.Tyr414His | |
| ENST00000307000.7:c.1225T>C | ENSP00000303500.2:p.Tyr409His | |
| ENST00000551114.2:n.902T>C | ||
| ENST00000553106.5:c.1240T>C | ENSP00000448059.1:p.Tyr414His | |
| ENST00000635477.1:c.344T>C | ||
| ENST00000635528.1:n.755T>C | ||
| NM_000277.1:c.1240T>C | NP_000268.1:p.Tyr414His | |
| XM_011538422.1:c.1183T>C | XP_011536724.1:p.Tyr395His | |
| NM_000277.2:c.1240T>C | NP_000268.1:p.Tyr414His | |
| NM_001354304.1:c.1240T>C | NP_001341233.1:p.Tyr414His | |
| NM_000277.3:c.1240T>C MANE Select | NP_000268.1:p.Tyr414His | |
| NM_001354304.2:c.1240T>C | NP_001341233.1:p.Tyr414His |