Linked Data
dbSNP Id:
rs1370844879
gnomAD v2:
1-47398324-A-T
gnomAD v3:
1-46932652-A-T
gnomAD v4:
1-46932652-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46932652A>T , CM000663.2:g.46932652A>T | GRCh38 |
| NC_000001.10:g.47398324A>T , CM000663.1:g.47398324A>T | GRCh37 |
| NC_000001.9:g.47170911A>T | NCBI36 |
| NG_007932.1:g.13833T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310638.9:c.1364+109T>A MANE Select | ENSP00000311095.4:n.1364+109T>A | |
| ENST00000310638.8:c.1364+109T>A | ENSP00000311095.4:n.1364+109T>A | |
| ENST00000371904.8:c.1367+109T>A | ENSP00000360971.4:n.1367+109T>A | |
| ENST00000371905.1:c.*105T>A | ENSP00000360972.1:n.*105T>A | |
| ENST00000462347.5:c.1070+109T>A | ENSP00000477495.1:n.1070+109T>A | |
| ENST00000465874.5:c.*271T>A | ENSP00000476368.1:n.*271T>A | |
| ENST00000468629.5:c.*69+109T>A | ENSP00000476619.1:n.*69+109T>A | |
| ENST00000474458.5:c.*69+109T>A | ENSP00000476988.1:n.*69+109T>A | |
| ENST00000475477.5:c.*158+109T>A | ENSP00000476854.1:n.*158+109T>A | |
| NM_000778.3:c.1364+109T>A | NP_000769.2:n.1364+109T>A | |
| XM_011540826.1:c.1382+109T>A | XP_011539128.1:n.1382+109T>A | |
| XM_011540827.1:c.1088+109T>A | XP_011539129.1:n.1088+109T>A | |
| XM_011540828.1:c.1070+109T>A | XP_011539130.1:n.1070+109T>A | |
| XR_246241.1:n.1268+109T>A | ||
| XR_246242.1:n.1252+109T>A | ||
| NM_001319155.1:c.1268+109T>A | NP_001306084.1:n.1268+109T>A | |
| NM_001363587.1:c.1070+109T>A | NP_001350516.1:n.1070+109T>A | |
| NR_134988.1:n.1069+109T>A | ||
| NR_134989.1:n.1260+109T>A | ||
| NR_134990.1:n.1254+109T>A | ||
| NR_134991.1:n.1241+109T>A | ||
| NR_134992.1:n.870+109T>A | ||
| NR_134993.1:n.1004+109T>A | ||
| NR_134994.1:n.1276+109T>A | ||
| XM_017000465.1:c.1052+109T>A | XP_016855954.1:n.1052+109T>A | |
| XR_001737005.1:n.1342+109T>A | ||
| NM_000778.4:c.1364+109T>A MANE Select | NP_000769.2:n.1364+109T>A | |
| NM_001319155.2:c.1268+109T>A | NP_001306084.1:n.1268+109T>A | |
| NM_001363587.2:c.1070+109T>A | NP_001350516.1:n.1070+109T>A | |
| NR_134988.2:n.1061+109T>A | ||
| NR_134989.2:n.1252+109T>A | ||
| NR_134990.2:n.1246+109T>A | ||
| NR_134991.2:n.1233+109T>A | ||
| NR_134992.2:n.862+109T>A | ||
| NR_134993.2:n.996+109T>A | ||
| NR_134994.2:n.1268+109T>A |