Linked Data
dbSNP Id:
rs1006064560
gnomAD v4:
19-4094580-G-T
MyVariant Identifiers:
chr19:g.4094580G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4094580G>T , CM000681.2:g.4094580G>T | GRCh38 |
| NC_000019.9:g.4094578G>T , CM000681.1:g.4094578G>T | GRCh37 |
| NC_000019.8:g.4045578G>T | NCBI36 |
| NG_007996.1:g.34549C>A , LRG_750:g.34549C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1486-82C>A | ||
| ENST00000688002.1:n.3198-82C>A | ||
| ENST00000688751.1:n.183-82C>A | ||
| ENST00000689792.1:n.951-82C>A | ||
| ENST00000262948.10:c.1047-82C>A MANE Select | ENSP00000262948.4:n.1047-82C>A | |
| ENST00000262948.9:c.1047-82C>A | ENSP00000262948.3:n.1047-82C>A | |
| ENST00000394867.8:c.756-82C>A | ENSP00000378336.1:n.756-82C>A | |
| ENST00000597263.5:n.232-82C>A | ||
| ENST00000599021.1:c.157-82C>A | ||
| ENST00000600584.5:n.2414C>A | ||
| ENST00000601786.5:n.1348-82C>A | ||
| NM_030662.3:c.1047-82C>A , LRG_750t1:c.1047-82C>A | NP_109587.1:n.1047-82C>A | |
| XM_006722799.2:c.768-82C>A | XP_006722862.1:n.768-82C>A | |
| XM_011528133.1:c.477-82C>A | XP_011526435.1:n.477-82C>A | |
| XM_017026989.1:c.1513C>A | XP_016882478.1:p.Arg505Ser | |
| XM_017026990.1:c.1234C>A | XP_016882479.1:p.Arg412Ser | |
| NM_030662.4:c.1047-82C>A MANE Select | NP_109587.1:n.1047-82C>A |