Linked Data
ClinVar Variation Id:
2977512
ClinVar RCV Id:
RCV003831630
dbSNP Id:
rs782179925
ExAC:
10:97956651 A / G
gnomAD v2:
10-97956651-A-G
gnomAD v3:
10-96196895-A-G
gnomAD v4:
10-96196895-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96196895A>G , CM000672.2:g.96196895A>G | GRCh38 |
| NC_000010.10:g.97956651A>G , CM000672.1:g.97956651A>G | GRCh37 |
| NC_000010.9:g.97946641A>G | NCBI36 |
| NG_007575.1:g.84676T>C , LRG_21:g.84676T>C | |
| NG_033267.2:g.72676A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371176.7:c.1182+13T>C (BLNK) | ENSP00000360218.2:n.1182+13T>C | |
| ENST00000467799.7:c.*721+13T>C (BLNK) | ENSP00000466331.3:n.*721+13T>C | |
| ENST00000696248.1:c.780+3180T>C (BLNK) | ENSP00000512505.1:n.780+3180T>C | |
| ENST00000696253.1:c.1026+3180T>C (BLNK) | ENSP00000512506.1:n.1026+3180T>C | |
| ENST00000696255.1:c.820+13T>C (BLNK) | ENSP00000512507.1:n.820+13T>C | |
| ENST00000696257.1:c.*914+13T>C (BLNK) | ENSP00000512509.1:n.*914+13T>C | |
| ENST00000696513.1:c.1251+13T>C (BLNK) | ENSP00000512679.1:n.1251+13T>C | |
| ENST00000696514.1:c.1239+13T>C (BLNK) | ENSP00000512680.1:n.1239+13T>C | |
| ENST00000696515.1:n.1519+13T>C (BLNK) | ||
| ENST00000696516.1:c.1023+13T>C (BLNK) | ENSP00000512681.1:n.1023+13T>C | |
| ENST00000696517.1:c.1018+13T>C (BLNK) | ENSP00000512682.1:n.1018+13T>C | |
| ENST00000696518.1:c.956+3180T>C (BLNK) | ENSP00000512683.1:n.956+3180T>C | |
| ENST00000696519.1:c.1045+3180T>C (BLNK) | ENSP00000512684.1:n.1045+3180T>C | |
| ENST00000696521.1:c.1201+13T>C (BLNK) | ENSP00000512685.1:n.1201+13T>C | |
| ENST00000696522.1:c.1091+13T>C (BLNK) | ENSP00000512686.1:n.1091+13T>C | |
| ENST00000696523.1:c.906+3180T>C (BLNK) | ENSP00000512687.1:n.906+3180T>C | |
| ENST00000224337.10:c.1251+13T>C (BLNK) MANE Select | ENSP00000224337.6:n.1251+13T>C | |
| ENST00000224337.9:c.1251+13T>C (BLNK) | ENSP00000224337.5:n.1251+13T>C | |
| ENST00000371176.6:c.1182+13T>C (BLNK) | ENSP00000360218.2:n.1182+13T>C | |
| ENST00000413476.6:c.1095+3180T>C (BLNK) | ENSP00000397487.2:n.1095+3180T>C | |
| ENST00000427367.6:c.780+3180T>C (BLNK) | ENSP00000391924.3:n.780+3180T>C | |
| ENST00000442635.2:n.36-6679A>G (ZNF518A) | ||
| ENST00000563195.1:n.226-7025A>G (ZNF518A) | ||
| NM_001114094.1:c.1182+13T>C (BLNK) | NP_001107566.1:n.1182+13T>C | |
| NM_001258440.1:c.1095+3180T>C (BLNK) | NP_001245369.1:n.1095+3180T>C | |
| NM_001258441.1:c.1026+3180T>C (BLNK) | NP_001245370.1:n.1026+3180T>C | |
| NM_001258442.1:c.780+3180T>C (BLNK) | NP_001245371.1:n.780+3180T>C | |
| NM_013314.3:c.1251+13T>C , LRG_21t1:c.1251+13T>C (BLNK) | NP_037446.1:n.1251+13T>C | |
| NR_047680.1:n.1193+13T>C (BLNK) | ||
| NR_047681.1:n.1141+13T>C (BLNK) | ||
| NR_047682.1:n.1136+13T>C (BLNK) | ||
| NR_047683.1:n.1074+3180T>C (BLNK) | ||
| XM_011539728.1:c.1251+13T>C (BLNK) | XP_011538030.1:n.1251+13T>C | |
| NR_138482.1:n.430-6679A>G (ZNF518A) | ||
| XM_011539728.2:c.1251+13T>C (BLNK) | XP_011538030.1:n.1251+13T>C | |
| XM_017016159.1:c.1182+13T>C (BLNK) | XP_016871648.1:n.1182+13T>C | |
| NM_013314.4:c.1251+13T>C (BLNK) MANE Select | NP_037446.1:n.1251+13T>C | |
| NM_001114094.2:c.1182+13T>C (BLNK) | NP_001107566.1:n.1182+13T>C | |
| NM_001258440.2:c.1095+3180T>C (BLNK) | NP_001245369.1:n.1095+3180T>C | |
| NM_001258441.2:c.1026+3180T>C (BLNK) | NP_001245370.1:n.1026+3180T>C | |
| NM_001258442.2:c.780+3180T>C (BLNK) | NP_001245371.1:n.780+3180T>C | |
| NR_047680.2:n.1246+13T>C (BLNK) | ||
| NR_047681.2:n.1194+13T>C (BLNK) | ||
| NR_047682.2:n.1189+13T>C (BLNK) | ||
| NR_047683.2:n.1127+3180T>C (BLNK) |