Linked Data
dbSNP Id:
rs1030201974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189058771G>A , CM000664.2:g.189058771G>A | GRCh38 |
| NC_000002.11:g.189923497G>A , CM000664.1:g.189923497G>A | GRCh37 |
| NC_000002.10:g.189631742G>A | NCBI36 |
| NG_011799.1:g.126109C>T | |
| NG_011799.2:g.126109C>T | |
| NG_011799.3:g.171531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2130+78C>T MANE Select | ENSP00000364000.3:n.2130+78C>T | |
| ENST00000374866.7:c.2130+78C>T | ENSP00000364000.3:n.2130+78C>T | |
| ENST00000470524.2:n.236+78C>T | ||
| ENST00000618828.1:c.969+78C>T | ENSP00000482184.1:n.969+78C>T | |
| NM_000393.3:c.2130+78C>T | NP_000384.2:n.2130+78C>T | |
| XM_011510573.1:c.1992+78C>T | XP_011508875.1:n.1992+78C>T | |
| NM_000393.4:c.2130+78C>T | NP_000384.2:n.2130+78C>T | |
| XM_011510573.3:c.1992+78C>T | XP_011508875.1:n.1992+78C>T | |
| NM_000393.5:c.2130+78C>T MANE Select | NP_000384.2:n.2130+78C>T |