Linked Data
ClinVar Variation Id:
1082650
ClinVar RCV Id:
RCV001399039
dbSNP Id:
rs2133965694
MyVariant Identifiers:
chr10:g.97964332G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96204576G>A , CM000672.2:g.96204576G>A | GRCh38 |
| NC_000010.10:g.97964332G>A , CM000672.1:g.97964332G>A | GRCh37 |
| NC_000010.9:g.97954322G>A | NCBI36 |
| NG_007575.1:g.76995C>T , LRG_21:g.76995C>T | |
| NG_033267.2:g.80357G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371176.7:c.789C>T (BLNK) | ENSP00000360218.2:p.His263= | |
| ENST00000467799.7:c.*328C>T (BLNK) | ENSP00000466331.3:n.*328C>T | |
| ENST00000468252.2:n.578C>T (BLNK) | ||
| ENST00000696248.1:c.543C>T (BLNK) | ENSP00000512505.1:p.His181= | |
| ENST00000696253.1:c.789C>T (BLNK) | ENSP00000512506.1:p.His263= | |
| ENST00000696255.1:c.427C>T (BLNK) | ENSP00000512507.1:n.427C>T | |
| ENST00000696257.1:c.*521C>T (BLNK) | ENSP00000512509.1:n.*521C>T | |
| ENST00000696513.1:c.858C>T (BLNK) | ENSP00000512679.1:p.His286= | |
| ENST00000696514.1:c.846C>T (BLNK) | ENSP00000512680.1:p.His282= | |
| ENST00000696515.1:n.1126C>T (BLNK) | ||
| ENST00000696516.1:c.630C>T (BLNK) | ENSP00000512681.1:n.630C>T | |
| ENST00000696517.1:c.625C>T (BLNK) | ENSP00000512682.1:n.625C>T | |
| ENST00000696518.1:c.719C>T (BLNK) | ENSP00000512683.1:n.719C>T | |
| ENST00000696519.1:c.808C>T (BLNK) | ENSP00000512684.1:n.808C>T | |
| ENST00000696521.1:c.808C>T (BLNK) | ENSP00000512685.1:n.808C>T | |
| ENST00000696522.1:c.698C>T (BLNK) | ENSP00000512686.1:n.698C>T | |
| ENST00000696523.1:c.669C>T (BLNK) | ENSP00000512687.1:n.669C>T | |
| ENST00000224337.10:c.858C>T (BLNK) MANE Select | ENSP00000224337.6:p.His286= | |
| ENST00000224337.9:c.858C>T (BLNK) | ENSP00000224337.5:p.His286= | |
| ENST00000371176.6:c.789C>T (BLNK) | ENSP00000360218.2:p.His263= | |
| ENST00000413476.6:c.858C>T (BLNK) | ENSP00000397487.2:p.His286= | |
| ENST00000427367.6:c.543C>T (BLNK) | ENSP00000391924.3:p.His181= | |
| ENST00000467799.6:c.*328C>T (BLNK) | ENSP00000466331.2:n.*328C>T | |
| ENST00000485193.1:n.279C>T (BLNK) | ||
| ENST00000563195.1:n.882G>A (ZNF518A) | ||
| NM_001114094.1:c.789C>T (BLNK) | NP_001107566.1:p.His263= | |
| NM_001258440.1:c.858C>T (BLNK) | NP_001245369.1:p.His286= | |
| NM_001258441.1:c.789C>T (BLNK) | NP_001245370.1:p.His263= | |
| NM_001258442.1:c.543C>T (BLNK) | NP_001245371.1:p.His181= | |
| NM_013314.3:c.858C>T , LRG_21t1:c.858C>T (BLNK) | NP_037446.1:p.His286= | |
| NR_047680.1:n.800C>T (BLNK) | ||
| NR_047681.1:n.748C>T (BLNK) | ||
| NR_047682.1:n.743C>T (BLNK) | ||
| NR_047683.1:n.837C>T (BLNK) | ||
| XM_011539728.1:c.858C>T (BLNK) | XP_011538030.1:p.His286= | |
| NR_138482.1:n.1141G>A (ZNF518A) | ||
| XM_011539728.2:c.858C>T (BLNK) | XP_011538030.1:p.His286= | |
| XM_017016159.1:c.789C>T (BLNK) | XP_016871648.1:p.His263= | |
| NM_013314.4:c.858C>T (BLNK) MANE Select | NP_037446.1:p.His286= | |
| NM_001114094.2:c.789C>T (BLNK) | NP_001107566.1:p.His263= | |
| NM_001258440.2:c.858C>T (BLNK) | NP_001245369.1:p.His286= | |
| NM_001258441.2:c.789C>T (BLNK) | NP_001245370.1:p.His263= | |
| NM_001258442.2:c.543C>T (BLNK) | NP_001245371.1:p.His181= | |
| NR_047680.2:n.853C>T (BLNK) | ||
| NR_047681.2:n.801C>T (BLNK) | ||
| NR_047682.2:n.796C>T (BLNK) | ||
| NR_047683.2:n.890C>T (BLNK) |