Linked Data
dbSNP Id:
rs2140802359
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45480192G>T , CM000677.2:g.45480192G>T | GRCh38 |
| NC_000015.9:g.45772390G>T , CM000677.1:g.45772390G>T | GRCh37 |
| NC_000015.8:g.43559682G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261867.5:c.*4971C>A MANE Select | ENSP00000261867.3:n.*4971C>A | |
| ENST00000261867.4:c.*4971C>A | ENSP00000261867.3:n.*4971C>A | |
| NM_013309.5:c.*4971C>A | NP_037441.2:n.*4971C>A | |
| NM_013309.6:c.*4971C>A MANE Select | NP_037441.2:n.*4971C>A |