Linked Data
ClinVar Variation Id:
263269
dbSNP Id:
rs4523
ExAC:
19:3595794 A / G
gnomAD v2:
19-3595794-A-G
gnomAD v3:
19-3595796-A-G
gnomAD v4:
19-3595796-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595796A>G , CM000681.2:g.3595796A>G | GRCh38 |
| NC_000019.9:g.3595794A>G , CM000681.1:g.3595794A>G | GRCh37 |
| NC_000019.8:g.3546794A>G | NCBI36 |
| NG_013363.1:g.16038T>C , LRG_578:g.16038T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375190.10:c.924T>C MANE Select | ENSP00000364336.4:p.Tyr308= | |
| ENST00000375190.8:c.924T>C | ENSP00000364336.3:p.Tyr308= | |
| ENST00000411851.3:c.924T>C | ENSP00000393333.2:p.Tyr308= | |
| ENST00000589966.1:c.535T>C | ENSP00000468145.1:p.Tyr179His | |
| NM_001060.5:c.924T>C , LRG_578t1:c.924T>C | NP_001051.1:p.Tyr308= | |
| NM_201636.2:c.924T>C | NP_963998.2:p.Tyr308= | |
| XM_011528214.1:c.924T>C | XP_011526516.1:p.Tyr308= | |
| XM_011528214.2:c.924T>C | XP_011526516.1:p.Tyr308= | |
| NM_001060.6:c.924T>C MANE Select | NP_001051.1:p.Tyr308= | |
| NM_201636.3:c.924T>C | NP_963998.2:p.Tyr308= |