Linked Data
ClinVar Variation Id:
424620
ClinVar RCV Id:
RCV000487430
dbSNP Id:
rs1064797073
gnomAD v4:
3-149198401-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149198401C>A , CM000665.2:g.149198401C>A | GRCh38 |
| NC_000003.11:g.148916188C>A , CM000665.1:g.148916188C>A | GRCh37 |
| NC_000003.10:g.150398878C>A | NCBI36 |
| NG_011800.1:g.28645G>T | |
| NG_011800.2:g.28645G>T | |
| NG_011800.3:g.28645G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264613.11:c.1679G>T MANE Select | ENSP00000264613.6:p.Cys560Phe | |
| ENST00000264613.10:c.1679G>T | ENSP00000264613.6:p.Cys560Phe | |
| ENST00000462336.5:n.53G>T | ||
| ENST00000471356.1:n.498G>T | ||
| ENST00000481169.5:c.1679G>T | ENSP00000418773.1:p.Cys560Phe | |
| ENST00000489736.5:n.904G>T | ||
| ENST00000490639.5:n.1711G>T | ||
| ENST00000494544.1:c.1028G>T | ENSP00000420545.1:p.Cys343Phe | |
| ENST00000497797.5:n.288G>T | ||
| NM_000096.3:c.1679G>T | NP_000087.1:p.Cys560Phe | |
| NR_046371.1:n.1932G>T | ||
| XM_006713499.2:c.1679G>T | XP_006713562.1:p.Cys560Phe | |
| XM_006713500.2:c.1679G>T | XP_006713563.1:p.Cys560Phe | |
| XM_006713501.2:c.1679G>T | XP_006713564.1:p.Cys560Phe | |
| XM_006713502.2:c.1679G>T | XP_006713565.1:p.Cys560Phe | |
| XM_011512435.1:c.1679G>T | XP_011510737.1:p.Cys560Phe | |
| XR_427361.2:n.1937G>T | ||
| XM_006713499.3:c.1679G>T | XP_006713562.1:p.Cys560Phe | |
| XM_006713500.4:c.1679G>T | XP_006713563.1:p.Cys560Phe | |
| XM_006713501.3:c.1679G>T | XP_006713564.1:p.Cys560Phe | |
| XM_011512435.2:c.1679G>T | XP_011510737.1:p.Cys560Phe | |
| XM_017005734.2:c.1679G>T | XP_016861223.1:p.Cys560Phe | |
| XM_017005735.2:c.1679G>T | XP_016861224.1:p.Cys560Phe | |
| XR_427361.3:n.1895G>T | ||
| NM_000096.4:c.1679G>T MANE Select | NP_000087.2:p.Cys560Phe | |
| NR_046371.2:n.1716G>T |