Linked Data
ClinVar Variation Id:
1965823
ClinVar RCV Id:
RCV002711399
dbSNP Id:
rs1971828649
gnomAD v4:
19-43507993-C-T
MyVariant Identifiers:
chr19:g.44012145C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43507993C>T , CM000681.2:g.43507993C>T | GRCh38 |
| NC_000019.9:g.44012145C>T , CM000681.1:g.44012145C>T | GRCh37 |
| NC_000019.8:g.48703985C>T | NCBI36 |
| NG_008141.1:g.24252G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.663G>A MANE Select | ENSP00000292147.1:p.Glu221= | |
| ENST00000292147.6:c.663G>A | ENSP00000292147.1:p.Glu221= | |
| ENST00000594342.5:c.*226G>A | ENSP00000469652.1:n.*226G>A | |
| ENST00000598330.1:c.*226G>A | ENSP00000469219.1:n.*226G>A | |
| ENST00000600651.5:c.663G>A | ENSP00000469037.1:p.Glu221= | |
| NM_014297.3:c.663G>A | NP_055112.2:p.Glu221= | |
| XM_005258687.2:c.582G>A | XP_005258744.1:p.Glu194= | |
| XM_005258688.2:c.294G>A | XP_005258745.1:p.Glu98= | |
| XM_011526685.1:c.384G>A | XP_011524987.1:p.Glu128= | |
| NM_001320867.1:c.630G>A | NP_001307796.1:p.Glu210= | |
| NM_001320868.1:c.294G>A | NP_001307797.1:p.Glu98= | |
| NM_001320869.1:c.369G>A | NP_001307798.1:p.Glu123= | |
| NM_014297.4:c.663G>A | NP_055112.2:p.Glu221= | |
| XM_005258687.4:c.582G>A | XP_005258744.1:p.Glu194= | |
| NM_014297.5:c.663G>A MANE Select | NP_055112.2:p.Glu221= | |
| NM_001320867.2:c.630G>A | NP_001307796.1:p.Glu210= | |
| NM_001320868.2:c.294G>A | NP_001307797.1:p.Glu98= | |
| NM_001320869.2:c.369G>A | NP_001307798.1:p.Glu123= |