Linked Data
ClinVar Variation Id:
2854653
ClinVar RCV Id:
RCV003614790
dbSNP Id:
rs1304318911
gnomAD v2:
10-97960750-A-G
gnomAD v3:
10-96200994-A-G
gnomAD v4:
10-96200994-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96200994A>G , CM000672.2:g.96200994A>G | GRCh38 |
| NC_000010.10:g.97960750A>G , CM000672.1:g.97960750A>G | GRCh37 |
| NC_000010.9:g.97950740A>G | NCBI36 |
| NG_007575.1:g.80577T>C , LRG_21:g.80577T>C | |
| NG_033267.2:g.76775A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371176.7:c.930T>C (BLNK) | ENSP00000360218.2:p.Thr310= | |
| ENST00000467799.7:c.*469T>C (BLNK) | ENSP00000466331.3:n.*469T>C | |
| ENST00000696248.1:c.684T>C (BLNK) | ENSP00000512505.1:p.Thr228= | |
| ENST00000696253.1:c.930T>C (BLNK) | ENSP00000512506.1:p.Thr310= | |
| ENST00000696255.1:c.568T>C (BLNK) | ENSP00000512507.1:n.568T>C | |
| ENST00000696257.1:c.*662T>C (BLNK) | ENSP00000512509.1:n.*662T>C | |
| ENST00000696513.1:c.999T>C (BLNK) | ENSP00000512679.1:p.Thr333= | |
| ENST00000696514.1:c.987T>C (BLNK) | ENSP00000512680.1:p.Thr329= | |
| ENST00000696515.1:n.1267T>C (BLNK) | ||
| ENST00000696516.1:c.771T>C (BLNK) | ENSP00000512681.1:n.771T>C | |
| ENST00000696517.1:c.766T>C (BLNK) | ENSP00000512682.1:n.766T>C | |
| ENST00000696518.1:c.860T>C (BLNK) | ENSP00000512683.1:n.860T>C | |
| ENST00000696519.1:c.949T>C (BLNK) | ENSP00000512684.1:n.949T>C | |
| ENST00000696521.1:c.949T>C (BLNK) | ENSP00000512685.1:n.949T>C | |
| ENST00000696522.1:c.839T>C (BLNK) | ENSP00000512686.1:n.839T>C | |
| ENST00000696523.1:c.810T>C (BLNK) | ENSP00000512687.1:n.810T>C | |
| ENST00000224337.10:c.999T>C (BLNK) MANE Select | ENSP00000224337.6:p.Thr333= | |
| ENST00000224337.9:c.999T>C (BLNK) | ENSP00000224337.5:p.Thr333= | |
| ENST00000371176.6:c.930T>C (BLNK) | ENSP00000360218.2:p.Thr310= | |
| ENST00000413476.6:c.999T>C (BLNK) | ENSP00000397487.2:p.Thr333= | |
| ENST00000427367.6:c.684T>C (BLNK) | ENSP00000391924.3:p.Thr228= | |
| ENST00000442635.2:n.36-2580A>G (ZNF518A) | ||
| ENST00000485193.1:n.420T>C (BLNK) | ||
| ENST00000563195.1:n.226-2926A>G (ZNF518A) | ||
| NM_001114094.1:c.930T>C (BLNK) | NP_001107566.1:p.Thr310= | |
| NM_001258440.1:c.999T>C (BLNK) | NP_001245369.1:p.Thr333= | |
| NM_001258441.1:c.930T>C (BLNK) | NP_001245370.1:p.Thr310= | |
| NM_001258442.1:c.684T>C (BLNK) | NP_001245371.1:p.Thr228= | |
| NM_013314.3:c.999T>C , LRG_21t1:c.999T>C (BLNK) | NP_037446.1:p.Thr333= | |
| NR_047680.1:n.941T>C (BLNK) | ||
| NR_047681.1:n.889T>C (BLNK) | ||
| NR_047682.1:n.884T>C (BLNK) | ||
| NR_047683.1:n.978T>C (BLNK) | ||
| XM_011539728.1:c.999T>C (BLNK) | XP_011538030.1:p.Thr333= | |
| NR_138482.1:n.430-2580A>G (ZNF518A) | ||
| XM_011539728.2:c.999T>C (BLNK) | XP_011538030.1:p.Thr333= | |
| XM_017016159.1:c.930T>C (BLNK) | XP_016871648.1:p.Thr310= | |
| NM_013314.4:c.999T>C (BLNK) MANE Select | NP_037446.1:p.Thr333= | |
| NM_001114094.2:c.930T>C (BLNK) | NP_001107566.1:p.Thr310= | |
| NM_001258440.2:c.999T>C (BLNK) | NP_001245369.1:p.Thr333= | |
| NM_001258441.2:c.930T>C (BLNK) | NP_001245370.1:p.Thr310= | |
| NM_001258442.2:c.684T>C (BLNK) | NP_001245371.1:p.Thr228= | |
| NR_047680.2:n.994T>C (BLNK) | ||
| NR_047681.2:n.942T>C (BLNK) | ||
| NR_047682.2:n.937T>C (BLNK) | ||
| NR_047683.2:n.1031T>C (BLNK) |