Linked Data
dbSNP Id:
rs1295501035
gnomAD v2:
6-10556044-T-C
gnomAD v3:
6-10555811-T-C
gnomAD v4:
6-10555811-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10555811T>C , CM000668.2:g.10555811T>C | GRCh38 |
| NC_000006.11:g.10556044T>C , CM000668.1:g.10556044T>C | GRCh37 |
| NC_000006.10:g.10664030T>C | NCBI36 |
| NG_007469.3:g.68589T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316170.9:c.-613T>C MANE Plus Clinical | ENSP00000314844.3:n.-613T>C | |
| ENST00000397423.7:n.484+26970T>C | ||
| ENST00000495262.7:c.925+25975T>C MANE Select | ENSP00000419411.2:n.925+25975T>C | |
| ENST00000379597.7:c.925+25975T>C | ENSP00000368917.3:n.925+25975T>C | |
| ENST00000397423.6:n.484+26970T>C | ||
| ENST00000410107.5:c.67+46653T>C | ENSP00000386321.1:n.67+46653T>C | |
| ENST00000461400.1:n.25+25975T>C | ||
| ENST00000474518.1:n.508+26970T>C | ||
| ENST00000475577.5:n.254+28151T>C | ||
| ENST00000485764.1:n.40+25975T>C | ||
| ENST00000489225.5:n.283+62880T>C | ||
| ENST00000489819.5:n.175+34217T>C | ||
| ENST00000495262.5:c.925+25975T>C | ENSP00000419411.1:n.925+25975T>C | |
| NM_001491.2:c.-613T>C | NP_001482.1:n.-613T>C | |
| NM_145649.4:c.925+25975T>C | NP_663624.1:n.925+25975T>C | |
| XM_005248999.2:c.694+25975T>C | XP_005249056.1:n.694+25975T>C | |
| XM_006715052.2:c.925+25975T>C | XP_006715115.1:n.925+25975T>C | |
| XM_006715053.2:c.926-23T>C | XP_006715116.1:n.926-23T>C | |
| XM_011514465.1:c.926-17319T>C | XP_011512767.1:n.926-17319T>C | |
| XM_011514467.1:c.694+25975T>C | XP_011512769.1:n.694+25975T>C | |
| XR_926136.1:n.1476+25975T>C | ||
| XM_006715052.3:c.925+25975T>C | XP_006715115.1:n.925+25975T>C | |
| XR_002956275.1:n.1476+25975T>C | ||
| XR_926136.2:n.1474+25975T>C | ||
| NM_001374747.1:c.925+25975T>C | NP_001361676.1:n.925+25975T>C | |
| NM_001491.3:c.-613T>C MANE Plus Clinical | NP_001482.1:n.-613T>C | |
| NM_145649.5:c.925+25975T>C MANE Select | NP_663624.1:n.925+25975T>C |