Linked Data
ClinVar Variation Id:
789675
ClinVar RCV Id:
RCV000972347
dbSNP Id:
rs73936311
ExAC:
19:56172528 G / T
gnomAD v2:
19-56172528-G-T
gnomAD v3:
19-55661162-G-T
gnomAD v4:
19-55661162-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55661162G>T , CM000681.2:g.55661162G>T | GRCh38 |
| NC_000019.9:g.56172528G>T , CM000681.1:g.56172528G>T | GRCh37 |
| NC_000019.8:g.60864340G>T | NCBI36 |
| NG_032904.1:g.12113G>T , LRG_623:g.12113G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592874.2:c.459G>T | ENSP00000466167.3:p.Val153= | |
| ENST00000308924.9:c.459G>T MANE Select | ENSP00000307863.3:p.Val153= | |
| ENST00000308924.8:c.459G>T | ENSP00000307863.3:p.Val153= | |
| ENST00000450554.6:c.459G>T | ENSP00000388475.1:p.Val153= | |
| ENST00000587196.2:c.575G>T | ||
| ENST00000588850.5:n.482G>T | ||
| ENST00000592874.1:c.229G>T | ||
| NM_001012478.1:c.459G>T | NP_001012496.1:p.Val153= | |
| NM_007279.2:c.459G>T , LRG_623t1:c.459G>T | NP_009210.1:p.Val153= | |
| XM_006722994.2:c.-94G>T | XP_006723057.1:n.-94G>T | |
| XM_011526410.1:c.147G>T | XP_011524712.1:p.Val49= | |
| NM_001012478.2:c.459G>T | NP_001012496.1:p.Val153= | |
| NM_007279.3:c.459G>T MANE Select | NP_009210.1:p.Val153= |