Linked Data
ClinVar Variation Id:
519838
dbSNP Id:
rs1407868144
gnomAD v3:
5-128330660-T-C
gnomAD v4:
5-128330660-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128330660T>C , CM000667.2:g.128330660T>C | GRCh38 |
| NC_000005.9:g.127666352T>C , CM000667.1:g.127666352T>C | GRCh37 |
| NC_000005.8:g.127694251T>C | NCBI36 |
| NG_008750.1:g.212384A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1042A>G | ||
| ENST00000703785.1:n.1123A>G | ||
| ENST00000262464.9:c.4258A>G MANE Select | ENSP00000262464.4:p.Ser1420Gly | |
| ENST00000262464.8:c.4258A>G | ENSP00000262464.4:p.Ser1420Gly | |
| ENST00000507835.5:c.808A>G | ENSP00000426839.1:p.Ser270Gly | |
| ENST00000508053.5:c.4258A>G | ENSP00000424571.1:p.Ser1420Gly | |
| ENST00000508989.5:c.4159A>G | ENSP00000425596.1:p.Ser1387Gly | |
| ENST00000619499.4:c.4255A>G | ENSP00000482132.1:p.Ser1419Gly | |
| NM_001999.3:c.4258A>G | NP_001990.2:p.Ser1420Gly | |
| XM_017009228.2:c.4105A>G | XP_016864717.1:p.Ser1369Gly | |
| NM_001999.4:c.4258A>G MANE Select | NP_001990.2:p.Ser1420Gly |