Linked Data
dbSNP Id:
rs1708583350
gnomAD v3:
3-93900883-C-T
gnomAD v4:
3-93900883-C-T
MyVariant Identifiers:
chr3:g.93619727C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93900883C>T , CM000665.2:g.93900883C>T | GRCh38 |
| NC_000003.11:g.93619727C>T , CM000665.1:g.93619727C>T | GRCh37 |
| NC_000003.10:g.95102417C>T | NCBI36 |
| NG_009813.1:g.78208G>A , LRG_572:g.78208G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.648G>A | ENSP00000330021.7:p.Val216= | |
| ENST00000394236.9:c.648G>A MANE Select | ENSP00000377783.3:p.Val216= | |
| ENST00000407433.6:c.603G>A | ENSP00000385794.2:p.Val201= | |
| ENST00000647936.1:c.648G>A | ENSP00000496822.1:p.Val216= | |
| ENST00000648381.1:n.816G>A | ||
| ENST00000648853.1:c.606G>A | ENSP00000497262.1:p.Val202= | |
| ENST00000649103.1:c.747G>A | ENSP00000497962.1:n.747G>A | |
| ENST00000650591.1:c.744G>A | ENSP00000497376.1:p.Val248= | |
| ENST00000394236.7:c.648G>A | ENSP00000377783.3:p.Val216= | |
| ENST00000407433.5:c.255G>A | ENSP00000385794.1:p.Val85= | |
| NM_000313.3:c.648G>A , LRG_572t1:c.648G>A | NP_000304.2:p.Val216= | |
| NM_001314077.1:c.744G>A , LRG_572t2:c.744G>A | NP_001301006.1:p.Val248= | |
| NM_000313.4:c.648G>A MANE Select | NP_000304.2:p.Val216= | |
| NM_001314077.2:c.744G>A | NP_001301006.1:p.Val248= |