Linked Data
dbSNP Id:
rs1285123009
gnomAD v2:
2-189963540-A-G
gnomAD v3:
2-189098814-A-G
gnomAD v4:
2-189098814-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098814A>G , CM000664.2:g.189098814A>G | GRCh38 |
| NC_000002.11:g.189963540A>G , CM000664.1:g.189963540A>G | GRCh37 |
| NC_000002.10:g.189671785A>G | NCBI36 |
| NG_011799.1:g.86066T>C | |
| NG_011799.2:g.86066T>C | |
| NG_011799.3:g.131488T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.370-55T>C MANE Select | ENSP00000364000.3:n.370-55T>C | |
| ENST00000649966.1:c.232-55T>C | ENSP00000496785.1:n.232-55T>C | |
| ENST00000374866.7:c.370-55T>C | ENSP00000364000.3:n.370-55T>C | |
| ENST00000618828.1:c.-261-55T>C | ENSP00000482184.1:n.-261-55T>C | |
| NM_000393.3:c.370-55T>C | NP_000384.2:n.370-55T>C | |
| XM_011510573.1:c.232-55T>C | XP_011508875.1:n.232-55T>C | |
| NM_000393.4:c.370-55T>C | NP_000384.2:n.370-55T>C | |
| XM_011510573.3:c.232-55T>C | XP_011508875.1:n.232-55T>C | |
| NM_000393.5:c.370-55T>C MANE Select | NP_000384.2:n.370-55T>C |