Linked Data
dbSNP Id:
rs2145049493
gnomAD v4:
19-4099205-G-T
MyVariant Identifiers:
chr19:g.4099203G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099205G>T , CM000681.2:g.4099205G>T | GRCh38 |
| NC_000019.9:g.4099203G>T , CM000681.1:g.4099203G>T | GRCh37 |
| NC_000019.8:g.4050203G>T | NCBI36 |
| NG_007996.1:g.29924C>A , LRG_750:g.29924C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1354C>A | ||
| ENST00000687128.1:n.1354C>A | ||
| ENST00000688002.1:n.1209C>A | ||
| ENST00000689792.1:n.819C>A | ||
| ENST00000262948.10:c.915C>A MANE Select | ENSP00000262948.4:p.Val305= | |
| ENST00000262948.9:c.915C>A | ENSP00000262948.3:p.Val305= | |
| ENST00000394867.8:c.624C>A | ENSP00000378336.1:p.Val208= | |
| ENST00000593364.5:n.862C>A | ||
| ENST00000595715.1:n.730C>A | ||
| ENST00000597263.5:n.169+1814C>A | ||
| ENST00000599021.1:c.29+1814C>A | ||
| ENST00000600584.5:n.1475C>A | ||
| ENST00000601786.5:n.1216C>A | ||
| NM_030662.3:c.915C>A , LRG_750t1:c.915C>A | NP_109587.1:p.Val305= | |
| XM_006722799.2:c.705+1814C>A | XP_006722862.1:n.705+1814C>A | |
| XM_011528133.1:c.345C>A | XP_011526435.1:p.Val115= | |
| XM_017026989.1:c.915C>A | XP_016882478.1:p.Val305= | |
| XM_017026990.1:c.705+1814C>A | XP_016882479.1:n.705+1814C>A | |
| NM_030662.4:c.915C>A MANE Select | NP_109587.1:p.Val305= |