Linked Data
ClinVar Variation Id:
640868
ClinVar RCV Id:
RCV000793984
dbSNP Id:
rs368061934
ExAC:
3:179123135 A / C
gnomAD v2:
3-179123135-A-C
gnomAD v3:
3-179405347-A-C
gnomAD v4:
3-179405347-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179405347A>C , CM000665.2:g.179405347A>C | GRCh38 |
| NC_000003.11:g.179123135A>C , CM000665.1:g.179123135A>C | GRCh37 |
| NC_000003.10:g.180605829A>C | NCBI36 |
| NG_033163.1:g.51237T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232564.8:c.759T>G MANE Select | ENSP00000232564.3:p.Phe253Leu | |
| ENST00000466899.6:c.700-4028T>G | ENSP00000420066.2:n.700-4028T>G | |
| ENST00000468623.6:c.720T>G | ENSP00000419693.2:p.Phe240Leu | |
| ENST00000674713.1:c.651T>G | ENSP00000502144.1:p.Phe217Leu | |
| ENST00000674862.1:c.759T>G | ENSP00000502628.1:p.Phe253Leu | |
| ENST00000674927.1:c.759T>G | ENSP00000501774.1:p.Phe253Leu | |
| ENST00000675901.1:c.759T>G | ENSP00000501992.1:p.Phe253Leu | |
| ENST00000676128.1:c.759T>G | ENSP00000501882.1:p.Phe253Leu | |
| ENST00000232564.7:c.759T>G | ENSP00000232564.3:p.Phe253Leu | |
| ENST00000466899.5:c.467-4028T>G | ||
| ENST00000468623.5:c.759T>G | ENSP00000419693.1:p.Phe253Leu | |
| NM_021629.3:c.759T>G | NP_067642.1:p.Phe253Leu | |
| XM_005247692.1:c.759T>G | XP_005247749.1:p.Phe253Leu | |
| XM_006713721.1:c.759T>G | XP_006713784.1:p.Phe253Leu | |
| XM_005247692.2:c.759T>G | XP_005247749.1:p.Phe253Leu | |
| XM_006713721.2:c.759T>G | XP_006713784.1:p.Phe253Leu | |
| NM_021629.4:c.759T>G MANE Select | NP_067642.1:p.Phe253Leu |