Linked Data
ClinVar Variation Id:
138300
dbSNP Id:
rs10380
ExAC:
5:7897191 C / T
gnomAD v2:
5-7897191-C-T
gnomAD v3:
5-7897078-C-T
gnomAD v4:
5-7897078-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7897078C>T , CM000667.2:g.7897078C>T | GRCh38 |
| NC_000005.9:g.7897191C>T , CM000667.1:g.7897191C>T | GRCh37 |
| NC_000005.8:g.7950191C>T | NCBI36 |
| NG_008856.1:g.32975C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440940.7:c.1783C>T MANE Select | ENSP00000402510.2:p.His595Tyr | |
| ENST00000264668.6:c.1864C>T | ENSP00000264668.2:p.His622Tyr | |
| ENST00000440940.6:c.1783C>T | ENSP00000402510.2:p.His595Tyr | |
| ENST00000508354.1:n.534C>T | ||
| ENST00000510525.5:c.1719C>T | ||
| ENST00000511461.5:c.1696C>T | ||
| ENST00000513439.5:c.*1490C>T | ENSP00000426710.1:n.*1490C>T | |
| NM_002454.2:c.1783C>T | NP_002445.2:p.His595Tyr | |
| NM_024010.2:c.1864C>T | NP_076915.2:p.His622Tyr | |
| XM_011514043.1:c.1864C>T | XP_011512345.1:p.His622Tyr | |
| XM_011514044.1:c.1783C>T | XP_011512346.1:p.His595Tyr | |
| XR_241703.1:n.1790C>T | ||
| XR_925614.1:n.1909C>T | ||
| NM_001364440.1:c.1783C>T | NP_001351369.1:p.His595Tyr | |
| NM_001364441.1:c.1783C>T | NP_001351370.1:p.His595Tyr | |
| NM_001364442.1:c.1783C>T | NP_001351371.1:p.His595Tyr | |
| NM_024010.3:c.1783C>T | NP_076915.3:p.His595Tyr | |
| NR_134480.1:n.1906C>T | ||
| NR_134481.1:n.1831C>T | ||
| NR_134482.1:n.1766C>T | ||
| NR_157168.1:n.1836C>T | ||
| NR_157169.1:n.1696C>T | ||
| NR_157170.1:n.1862C>T | ||
| NR_157171.1:n.1719C>T | ||
| NR_157172.1:n.1633C>T | ||
| NR_157173.1:n.1873C>T | ||
| NR_157174.1:n.1874C>T | ||
| NR_157175.1:n.2028C>T | ||
| NR_157176.1:n.2191C>T | ||
| NR_157177.1:n.1871C>T | ||
| NR_157178.1:n.1899C>T | ||
| XM_024446063.1:c.1828C>T | XP_024301831.1:p.His610Tyr | |
| XM_024446064.1:c.1783C>T | XP_024301832.1:p.His595Tyr | |
| XR_001742071.1:n.2061C>T | ||
| XR_001742072.1:n.2038C>T | ||
| XR_001742074.1:n.1797C>T | ||
| XR_001742075.1:n.1949C>T | ||
| XR_001742076.1:n.2026C>T | ||
| XR_001742077.1:n.2049C>T | ||
| NM_001364440.2:c.1783C>T | NP_001351369.1:p.His595Tyr | |
| NM_001364441.2:c.1783C>T | NP_001351370.1:p.His595Tyr | |
| NM_001364442.2:c.1783C>T | NP_001351371.1:p.His595Tyr | |
| NM_002454.3:c.1783C>T MANE Select | NP_002445.2:p.His595Tyr | |
| NM_024010.4:c.1783C>T | NP_076915.3:p.His595Tyr | |
| NR_134480.2:n.1862C>T | ||
| NR_134481.2:n.1787C>T | ||
| NR_134482.2:n.1722C>T | ||
| NR_157168.2:n.1836C>T | ||
| NR_157169.2:n.1696C>T | ||
| NR_157170.2:n.1862C>T | ||
| NR_157171.2:n.1719C>T | ||
| NR_157172.2:n.1633C>T | ||
| NR_157173.2:n.1873C>T | ||
| NR_157174.2:n.1874C>T | ||
| NR_157175.2:n.2028C>T | ||
| NR_157176.2:n.2191C>T | ||
| NR_157177.2:n.1871C>T | ||
| NR_157178.2:n.1899C>T |