Linked Data
ClinVar Variation Id:
2689239
ClinVar RCV Id:
RCV003487921
dbSNP Id:
rs766982215
ExAC:
4:997223 C / T
gnomAD v2:
4-997223-C-T
gnomAD v4:
4-1003435-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003435C>T , CM000666.2:g.1003435C>T | GRCh38 |
| NC_000004.11:g.997223C>T , CM000666.1:g.997223C>T | GRCh37 |
| NC_000004.10:g.987223C>T | NCBI36 |
| NG_008103.1:g.21439C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1615C>T | ENSP00000247933.4:p.His539Tyr | |
| ENST00000514224.2:c.1615C>T MANE Select | ENSP00000425081.2:p.His539Tyr | |
| ENST00000652070.1:n.1671C>T | ||
| ENST00000247933.8:c.1615C>T | ENSP00000247933.4:p.His539Tyr | |
| ENST00000514224.1:c.1219C>T | ENSP00000425081.1:p.His407Tyr | |
| ENST00000514417.1:n.7C>T | ||
| ENST00000514698.5:n.1722C>T | ||
| NM_000203.4:c.1615C>T | NP_000194.2:p.His539Tyr | |
| NR_110313.1:n.1703C>T | ||
| XM_006713882.2:c.1219C>T | XP_006713945.1:p.His407Tyr | |
| XM_011513459.1:c.1681C>T | XP_011511761.1:p.His561Tyr | |
| XM_011513460.1:c.1474C>T | XP_011511762.1:p.His492Tyr | |
| XM_011513461.1:c.1408C>T | XP_011511763.1:p.His470Tyr | |
| XM_011513462.1:c.1327C>T | XP_011511764.1:p.His443Tyr | |
| XM_011513463.1:c.1327C>T | XP_011511765.1:p.His443Tyr | |
| XR_924947.1:n.1871C>T | ||
| NM_000203.5:c.1615C>T MANE Select | NP_000194.2:p.His539Tyr | |
| NM_001363576.1:c.1219C>T | NP_001350505.1:p.His407Tyr | |
| XM_011513461.2:c.1408C>T | XP_011511763.1:p.His470Tyr | |
| XM_017008163.1:c.655C>T | XP_016863652.1:p.His219Tyr |