Linked Data
dbSNP Id:
rs1060504777
gnomAD v4:
19-4099211-G-C
MyVariant Identifiers:
chr19:g.4099209G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099211G>C , CM000681.2:g.4099211G>C | GRCh38 |
| NC_000019.9:g.4099209G>C , CM000681.1:g.4099209G>C | GRCh37 |
| NC_000019.8:g.4050209G>C | NCBI36 |
| NG_007996.1:g.29918C>G , LRG_750:g.29918C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1348C>G | ||
| ENST00000687128.1:n.1348C>G | ||
| ENST00000688002.1:n.1203C>G | ||
| ENST00000689792.1:n.813C>G | ||
| ENST00000262948.10:c.909C>G MANE Select | ENSP00000262948.4:p.Arg303= | |
| ENST00000262948.9:c.909C>G | ENSP00000262948.3:p.Arg303= | |
| ENST00000394867.8:c.618C>G | ENSP00000378336.1:p.Arg206= | |
| ENST00000593364.5:n.856C>G | ||
| ENST00000595715.1:n.724C>G | ||
| ENST00000597263.5:n.169+1808C>G | ||
| ENST00000599021.1:c.29+1808C>G | ||
| ENST00000600584.5:n.1469C>G | ||
| ENST00000601786.5:n.1210C>G | ||
| NM_030662.3:c.909C>G , LRG_750t1:c.909C>G | NP_109587.1:p.Arg303= | |
| XM_006722799.2:c.705+1808C>G | XP_006722862.1:n.705+1808C>G | |
| XM_011528133.1:c.339C>G | XP_011526435.1:p.Arg113= | |
| XM_017026989.1:c.909C>G | XP_016882478.1:p.Arg303= | |
| XM_017026990.1:c.705+1808C>G | XP_016882479.1:n.705+1808C>G | |
| NM_030662.4:c.909C>G MANE Select | NP_109587.1:p.Arg303= |