Linked Data
dbSNP Id:
rs747935038
ExAC:
2:189963536 A / T
gnomAD v2:
2-189963536-A-T
gnomAD v3:
2-189098810-A-T
gnomAD v4:
2-189098810-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098810A>T , CM000664.2:g.189098810A>T | GRCh38 |
| NC_000002.11:g.189963536A>T , CM000664.1:g.189963536A>T | GRCh37 |
| NC_000002.10:g.189671781A>T | NCBI36 |
| NG_011799.1:g.86070T>A | |
| NG_011799.2:g.86070T>A | |
| NG_011799.3:g.131492T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.370-51T>A MANE Select | ENSP00000364000.3:n.370-51T>A | |
| ENST00000649966.1:c.232-51T>A | ENSP00000496785.1:n.232-51T>A | |
| ENST00000374866.7:c.370-51T>A | ENSP00000364000.3:n.370-51T>A | |
| ENST00000618828.1:c.-261-51T>A | ENSP00000482184.1:n.-261-51T>A | |
| NM_000393.3:c.370-51T>A | NP_000384.2:n.370-51T>A | |
| XM_011510573.1:c.232-51T>A | XP_011508875.1:n.232-51T>A | |
| NM_000393.4:c.370-51T>A | NP_000384.2:n.370-51T>A | |
| XM_011510573.3:c.232-51T>A | XP_011508875.1:n.232-51T>A | |
| NM_000393.5:c.370-51T>A MANE Select | NP_000384.2:n.370-51T>A |