Linked Data
dbSNP Id:
rs1940400145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451385G>T , CM000674.2:g.52451385G>T | GRCh38 |
| NC_000012.11:g.52845169G>T , CM000674.1:g.52845169G>T | GRCh37 |
| NC_000012.10:g.51131436G>T | NCBI36 |
| NG_008299.1:g.5742C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.540+154C>A MANE Select | ENSP00000252252.3:n.540+154C>A | |
| ENST00000252252.3:c.540+154C>A | ENSP00000252252.3:n.540+154C>A | |
| NM_005555.3:c.540+154C>A | NP_005546.2:n.540+154C>A | |
| NM_005555.4:c.540+154C>A MANE Select | NP_005546.2:n.540+154C>A |