Linked Data
dbSNP Id:
rs755195275
ExAC:
1:47398406 T / A
gnomAD v2:
1-47398406-T-A
gnomAD v4:
1-46932734-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46932734T>A , CM000663.2:g.46932734T>A | GRCh38 |
| NC_000001.10:g.47398406T>A , CM000663.1:g.47398406T>A | GRCh37 |
| NC_000001.9:g.47170993T>A | NCBI36 |
| NG_007932.1:g.13751A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310638.9:c.1364+27A>T MANE Select | ENSP00000311095.4:n.1364+27A>T | |
| ENST00000310638.8:c.1364+27A>T | ENSP00000311095.4:n.1364+27A>T | |
| ENST00000371904.8:c.1367+27A>T | ENSP00000360971.4:n.1367+27A>T | |
| ENST00000371905.1:c.*23A>T | ENSP00000360972.1:n.*23A>T | |
| ENST00000462347.5:c.1070+27A>T | ENSP00000477495.1:n.1070+27A>T | |
| ENST00000465874.5:c.*189A>T | ENSP00000476368.1:n.*189A>T | |
| ENST00000468629.5:c.*69+27A>T | ENSP00000476619.1:n.*69+27A>T | |
| ENST00000474458.5:c.*69+27A>T | ENSP00000476988.1:n.*69+27A>T | |
| ENST00000475477.5:c.*158+27A>T | ENSP00000476854.1:n.*158+27A>T | |
| NM_000778.3:c.1364+27A>T | NP_000769.2:n.1364+27A>T | |
| XM_011540826.1:c.1382+27A>T | XP_011539128.1:n.1382+27A>T | |
| XM_011540827.1:c.1088+27A>T | XP_011539129.1:n.1088+27A>T | |
| XM_011540828.1:c.1070+27A>T | XP_011539130.1:n.1070+27A>T | |
| XR_246241.1:n.1268+27A>T | ||
| XR_246242.1:n.1252+27A>T | ||
| NM_001319155.1:c.1268+27A>T | NP_001306084.1:n.1268+27A>T | |
| NM_001363587.1:c.1070+27A>T | NP_001350516.1:n.1070+27A>T | |
| NR_134988.1:n.1069+27A>T | ||
| NR_134989.1:n.1260+27A>T | ||
| NR_134990.1:n.1254+27A>T | ||
| NR_134991.1:n.1241+27A>T | ||
| NR_134992.1:n.870+27A>T | ||
| NR_134993.1:n.1004+27A>T | ||
| NR_134994.1:n.1276+27A>T | ||
| XM_017000465.1:c.1052+27A>T | XP_016855954.1:n.1052+27A>T | |
| XR_001737005.1:n.1342+27A>T | ||
| NM_000778.4:c.1364+27A>T MANE Select | NP_000769.2:n.1364+27A>T | |
| NM_001319155.2:c.1268+27A>T | NP_001306084.1:n.1268+27A>T | |
| NM_001363587.2:c.1070+27A>T | NP_001350516.1:n.1070+27A>T | |
| NR_134988.2:n.1061+27A>T | ||
| NR_134989.2:n.1252+27A>T | ||
| NR_134990.2:n.1246+27A>T | ||
| NR_134991.2:n.1233+27A>T | ||
| NR_134992.2:n.862+27A>T | ||
| NR_134993.2:n.996+27A>T | ||
| NR_134994.2:n.1268+27A>T |