Linked Data
dbSNP Id:
rs2145036473
gnomAD v4:
19-4090637-C-T
MyVariant Identifiers:
chr19:g.4090635C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090637C>T , CM000681.2:g.4090637C>T | GRCh38 |
| NC_000019.9:g.4090635C>T , CM000681.1:g.4090635C>T | GRCh37 |
| NC_000019.8:g.4041635C>T | NCBI36 |
| NG_007996.1:g.38492G>A , LRG_750:g.38492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1603G>A | ||
| ENST00000688002.1:n.3315G>A | ||
| ENST00000688751.1:n.300G>A | ||
| ENST00000689792.1:n.1068G>A | ||
| ENST00000262948.10:c.1164G>A MANE Select | ENSP00000262948.4:p.Arg388= | |
| ENST00000262948.9:c.1164G>A | ENSP00000262948.3:p.Arg388= | |
| ENST00000394867.8:c.873G>A | ENSP00000378336.1:p.Arg291= | |
| ENST00000597263.5:n.349G>A | ||
| ENST00000599021.1:c.274G>A | ||
| ENST00000600584.5:n.2613G>A | ||
| ENST00000601786.5:n.1465G>A | ||
| NM_030662.3:c.1164G>A , LRG_750t1:c.1164G>A | NP_109587.1:p.Arg388= | |
| XM_006722799.2:c.885G>A | XP_006722862.1:p.Arg295= | |
| XM_011528133.1:c.594G>A | XP_011526435.1:p.Arg198= | |
| NM_030662.4:c.1164G>A MANE Select | NP_109587.1:p.Arg388= |