Linked Data
ClinVar Variation Id:
656474
ClinVar RCV Id:
RCV000812904
dbSNP Id:
rs202038919
ExAC:
1:151785423 G / A
gnomAD v2:
1-151785423-G-A
gnomAD v3:
1-151812947-G-A
gnomAD v4:
1-151812947-G-A
COSMIC:
COSM72472
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151812947G>A , CM000663.2:g.151812947G>A | GRCh38 |
| NC_000001.10:g.151785423G>A , CM000663.1:g.151785423G>A | GRCh37 |
| NC_000001.9:g.150052047G>A | NCBI36 |
| NG_029118.1:g.23926C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652040.2:c.1000C>T | ENSP00000498548.2:p.His334Tyr | |
| ENST00000697811.1:c.934-1513C>T | ENSP00000513447.1:n.934-1513C>T | |
| ENST00000697812.1:n.423C>T | ||
| ENST00000697813.1:n.1461C>T | ||
| ENST00000318247.7:c.1285C>T MANE Select | ENSP00000327025.6:p.His429Tyr | |
| ENST00000356728.11:c.1222C>T | ENSP00000349164.6:p.His408Tyr | |
| ENST00000638901.1:c.1476C>T | ||
| ENST00000651814.1:c.*242C>T | ENSP00000498691.1:n.*242C>T | |
| ENST00000651893.1:c.562C>T | ||
| ENST00000318247.6:c.1285C>T | ENSP00000327025.6:p.His429Tyr | |
| ENST00000356728.10:c.1222C>T | ENSP00000349164.6:p.His408Tyr | |
| ENST00000480719.1:n.1843C>T | ||
| NM_001001523.1:c.1222C>T | NP_001001523.1:p.His408Tyr | |
| NM_005060.3:c.1285C>T | NP_005051.2:p.His429Tyr | |
| XM_006711484.2:c.1684C>T | XP_006711547.2:p.His562Tyr | |
| XR_426792.2:n.2046C>T | ||
| XM_006711484.4:c.1684C>T | XP_006711547.2:p.His562Tyr | |
| NM_005060.4:c.1285C>T MANE Select | NP_005051.2:p.His429Tyr | |
| NM_001001523.2:c.1222C>T | NP_001001523.1:p.His408Tyr |