Linked Data
ClinVar Variation Id:
519846
ClinVar RCV Id:
RCV002313327
dbSNP Id:
rs767169845
ExAC:
5:127673705 G / A
gnomAD v2:
5-127673705-G-A
gnomAD v4:
5-128338013-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338013G>A , CM000667.2:g.128338013G>A | GRCh38 |
| NC_000005.9:g.127673705G>A , CM000667.1:g.127673705G>A | GRCh37 |
| NC_000005.8:g.127701604G>A | NCBI36 |
| NG_008750.1:g.205031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.366C>T | ||
| ENST00000703785.1:n.447C>T | ||
| ENST00000262464.9:c.3582C>T MANE Select | ENSP00000262464.4:p.Ser1194= | |
| ENST00000262464.8:c.3582C>T | ENSP00000262464.4:p.Ser1194= | |
| ENST00000507835.5:c.132C>T | ENSP00000426839.1:p.Ser44= | |
| ENST00000508053.5:c.3582C>T | ENSP00000424571.1:p.Ser1194= | |
| ENST00000508989.5:c.3483C>T | ENSP00000425596.1:p.Ser1161= | |
| ENST00000619499.4:c.3579C>T | ENSP00000482132.1:p.Ser1193= | |
| NM_001999.3:c.3582C>T | NP_001990.2:p.Ser1194= | |
| XM_017009228.2:c.3429C>T | XP_016864717.1:p.Ser1143= | |
| NM_001999.4:c.3582C>T MANE Select | NP_001990.2:p.Ser1194= |