Linked Data
ClinVar Variation Id:
2805527
ClinVar RCV Id:
RCV003676802
dbSNP Id:
rs2089683838
gnomAD v4:
19-52212812-C-T
MyVariant Identifiers:
chr19:g.52716065C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52212812C>T , CM000681.2:g.52212812C>T | GRCh38 |
| NC_000019.9:g.52716065C>T , CM000681.1:g.52716065C>T | GRCh37 |
| NC_000019.8:g.57407877C>T | NCBI36 |
| NG_047068.1:g.28011C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454220.7:c.750C>T | ENSP00000391905.3:p.Ser250= | |
| ENST00000703395.1:c.93C>T | ENSP00000515286.1:p.Ser31= | |
| ENST00000703396.1:n.574C>T | ||
| ENST00000703397.1:c.93C>T | ENSP00000515287.1:p.Ser31= | |
| ENST00000703398.1:c.672C>T | ENSP00000515288.1:p.Ser224= | |
| ENST00000703421.1:n.783C>T | ||
| ENST00000703422.1:c.606C>T | ENSP00000515292.1:p.Ser202= | |
| ENST00000703423.1:c.93C>T | ENSP00000515293.1:p.Ser31= | |
| ENST00000322088.11:c.630C>T MANE Select | ENSP00000324804.6:p.Ser210= | |
| ENST00000322088.10:c.630C>T | ENSP00000324804.6:p.Ser210= | |
| ENST00000454220.6:c.750C>T | ENSP00000391905.2:p.Ser250= | |
| ENST00000462047.1:n.321C>T | ||
| ENST00000462990.5:c.93C>T | ENSP00000470504.1:p.Ser31= | |
| NM_014225.5:c.630C>T | NP_055040.2:p.Ser210= | |
| NR_033500.1:n.824C>T | ||
| NM_001363656.1:c.93C>T | NP_001350585.1:p.Ser31= | |
| NM_014225.6:c.630C>T MANE Select | NP_055040.2:p.Ser210= | |
| NM_001363656.2:c.93C>T | NP_001350585.1:p.Ser31= | |
| NR_033500.2:n.574C>T |