Linked Data
ClinVar Variation Id:
1059928
ClinVar RCV Id:
RCV001369290
dbSNP Id:
rs782205113
ExAC:
10:97956817 A / C
gnomAD v2:
10-97956817-A-C
gnomAD v4:
10-96197061-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96197061A>C , CM000672.2:g.96197061A>C | GRCh38 |
| NC_000010.10:g.97956817A>C , CM000672.1:g.97956817A>C | GRCh37 |
| NC_000010.9:g.97946807A>C | NCBI36 |
| NG_007575.1:g.84510T>G , LRG_21:g.84510T>G | |
| NG_033267.2:g.72842A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371176.7:c.1029T>G (BLNK) | ENSP00000360218.2:p.Asp343Glu | |
| ENST00000467799.7:c.*568T>G (BLNK) | ENSP00000466331.3:n.*568T>G | |
| ENST00000696248.1:c.780+3014T>G (BLNK) | ENSP00000512505.1:n.780+3014T>G | |
| ENST00000696253.1:c.1026+3014T>G (BLNK) | ENSP00000512506.1:n.1026+3014T>G | |
| ENST00000696255.1:c.667T>G (BLNK) | ENSP00000512507.1:n.667T>G | |
| ENST00000696257.1:c.*761T>G (BLNK) | ENSP00000512509.1:n.*761T>G | |
| ENST00000696513.1:c.1098T>G (BLNK) | ENSP00000512679.1:p.Asp366Glu | |
| ENST00000696514.1:c.1086T>G (BLNK) | ENSP00000512680.1:p.Asp362Glu | |
| ENST00000696515.1:n.1366T>G (BLNK) | ||
| ENST00000696516.1:c.870T>G (BLNK) | ENSP00000512681.1:n.870T>G | |
| ENST00000696517.1:c.865T>G (BLNK) | ENSP00000512682.1:n.865T>G | |
| ENST00000696518.1:c.956+3014T>G (BLNK) | ENSP00000512683.1:n.956+3014T>G | |
| ENST00000696519.1:c.1045+3014T>G (BLNK) | ENSP00000512684.1:n.1045+3014T>G | |
| ENST00000696521.1:c.1048T>G (BLNK) | ENSP00000512685.1:n.1048T>G | |
| ENST00000696522.1:c.938T>G (BLNK) | ENSP00000512686.1:n.938T>G | |
| ENST00000696523.1:c.906+3014T>G (BLNK) | ENSP00000512687.1:n.906+3014T>G | |
| ENST00000224337.10:c.1098T>G (BLNK) MANE Select | ENSP00000224337.6:p.Asp366Glu | |
| ENST00000224337.9:c.1098T>G (BLNK) | ENSP00000224337.5:p.Asp366Glu | |
| ENST00000371176.6:c.1029T>G (BLNK) | ENSP00000360218.2:p.Asp343Glu | |
| ENST00000413476.6:c.1095+3014T>G (BLNK) | ENSP00000397487.2:n.1095+3014T>G | |
| ENST00000427367.6:c.780+3014T>G (BLNK) | ENSP00000391924.3:n.780+3014T>G | |
| ENST00000442635.2:n.36-6513A>C (ZNF518A) | ||
| ENST00000563195.1:n.226-6859A>C (ZNF518A) | ||
| NM_001114094.1:c.1029T>G (BLNK) | NP_001107566.1:p.Asp343Glu | |
| NM_001258440.1:c.1095+3014T>G (BLNK) | NP_001245369.1:n.1095+3014T>G | |
| NM_001258441.1:c.1026+3014T>G (BLNK) | NP_001245370.1:n.1026+3014T>G | |
| NM_001258442.1:c.780+3014T>G (BLNK) | NP_001245371.1:n.780+3014T>G | |
| NM_013314.3:c.1098T>G , LRG_21t1:c.1098T>G (BLNK) | NP_037446.1:p.Asp366Glu | |
| NR_047680.1:n.1040T>G (BLNK) | ||
| NR_047681.1:n.988T>G (BLNK) | ||
| NR_047682.1:n.983T>G (BLNK) | ||
| NR_047683.1:n.1074+3014T>G (BLNK) | ||
| XM_011539728.1:c.1098T>G (BLNK) | XP_011538030.1:p.Asp366Glu | |
| NR_138482.1:n.430-6513A>C (ZNF518A) | ||
| XM_011539728.2:c.1098T>G (BLNK) | XP_011538030.1:p.Asp366Glu | |
| XM_017016159.1:c.1029T>G (BLNK) | XP_016871648.1:p.Asp343Glu | |
| NM_013314.4:c.1098T>G (BLNK) MANE Select | NP_037446.1:p.Asp366Glu | |
| NM_001114094.2:c.1029T>G (BLNK) | NP_001107566.1:p.Asp343Glu | |
| NM_001258440.2:c.1095+3014T>G (BLNK) | NP_001245369.1:n.1095+3014T>G | |
| NM_001258441.2:c.1026+3014T>G (BLNK) | NP_001245370.1:n.1026+3014T>G | |
| NM_001258442.2:c.780+3014T>G (BLNK) | NP_001245371.1:n.780+3014T>G | |
| NR_047680.2:n.1093T>G (BLNK) | ||
| NR_047681.2:n.1041T>G (BLNK) | ||
| NR_047682.2:n.1036T>G (BLNK) | ||
| NR_047683.2:n.1127+3014T>G (BLNK) |