Linked Data
dbSNP Id:
rs1891583614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45480214G>T , CM000677.2:g.45480214G>T | GRCh38 |
| NC_000015.9:g.45772412G>T , CM000677.1:g.45772412G>T | GRCh37 |
| NC_000015.8:g.43559704G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261867.5:c.*4949C>A MANE Select | ENSP00000261867.3:n.*4949C>A | |
| ENST00000261867.4:c.*4949C>A | ENSP00000261867.3:n.*4949C>A | |
| NM_013309.5:c.*4949C>A | NP_037441.2:n.*4949C>A | |
| NM_013309.6:c.*4949C>A MANE Select | NP_037441.2:n.*4949C>A |