Linked Data
ClinVar Variation Id:
1236214
ClinVar RCV Id:
RCV001638201
dbSNP Id:
rs1131532
ExAC:
3:172224303 A / G
gnomAD v2:
3-172224303-A-G
gnomAD v3:
3-172506513-A-G
gnomAD v4:
3-172506513-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172506513A>G , CM000665.2:g.172506513A>G | GRCh38 |
| NC_000003.11:g.172224303A>G , CM000665.1:g.172224303A>G | GRCh37 |
| NC_000003.10:g.173706997A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241261.7:c.825T>C MANE Select | ENSP00000241261.2:p.Phe275= | |
| ENST00000241261.6:c.825T>C | ENSP00000241261.2:p.Phe275= | |
| ENST00000420541.6:c.*371T>C | ENSP00000389931.2:n.*371T>C | |
| NM_001190942.1:c.*371T>C | NP_001177871.1:n.*371T>C | |
| NM_003810.3:c.825T>C | NP_003801.1:p.Phe275= | |
| NR_033994.1:n.905T>C | ||
| NM_003810.4:c.825T>C MANE Select | NP_003801.1:p.Phe275= | |
| NM_001190942.2:c.*371T>C | NP_001177871.1:n.*371T>C | |
| NR_033994.2:n.828T>C |