Linked Data
ClinVar Variation Id:
214826
dbSNP Id:
rs573586959
ExAC:
19:1395503 C / T
gnomAD v2:
19-1395503-C-T
gnomAD v3:
19-1395504-C-T
gnomAD v4:
19-1395504-C-T
MyVariant Identifiers:
chr19:g.1395503C>T (hg19)
chr19:g.1395503_1395509delinsTGCCGGA (hg19)
chr19:g.1395504C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1395504C>T , CM000681.2:g.1395504C>T | GRCh38 |
| NC_000019.9:g.1395503C>T , CM000681.1:g.1395503C>T | GRCh37 |
| NC_000019.8:g.1346503C>T | NCBI36 |
| NG_008283.1:g.16621C>T | |
| NG_009785.1:g.11050G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233627.14:c.*16C>T MANE Select | ENSP00000233627.9:n.*16C>T | |
| ENST00000233627.13:c.*16C>T | ENSP00000233627.9:n.*16C>T | |
| ENST00000313408.11:c.*2097C>T | ENSP00000364262.5:n.*2097C>T | |
| ENST00000534853.5:c.*452C>T | ENSP00000442822.1:n.*452C>T | |
| ENST00000535382.1:n.2970C>T | ||
| ENST00000539480.5:c.*1082C>T | ENSP00000443273.1:n.*1082C>T | |
| ENST00000540530.5:n.1622C>T | ||
| ENST00000543289.5:n.3276C>T | ||
| ENST00000545446.5:n.3009C>T | ||
| ENST00000546172.7:c.*654C>T | ENSP00000467094.1:n.*654C>T | |
| ENST00000591358.1:n.3663C>T | ||
| ENST00000620479.4:c.*16C>T | ENSP00000480984.1:n.*16C>T | |
| ENST00000622587.4:n.722C>T | ||
| NM_024407.4:c.*16C>T | NP_077718.3:n.*16C>T | |
| NM_001363602.1:c.*1082C>T | NP_001350531.1:n.*1082C>T | |
| XM_024451499.1:c.*16C>T | XP_024307267.1:n.*16C>T | |
| NM_024407.5:c.*16C>T MANE Select | NP_077718.3:n.*16C>T | |
| NM_001363602.2:c.*1082C>T | NP_001350531.1:n.*1082C>T |