Linked Data
dbSNP Id:
rs2069977389
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955626C>A , CM000670.2:g.19955626C>A | GRCh38 |
| NC_000008.10:g.19813137C>A , CM000670.1:g.19813137C>A | GRCh37 |
| NC_000008.9:g.19857417C>A | NCBI36 |
| NG_008855.1:g.21556C>A | |
| NG_008855.2:g.58910C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.776-215C>A MANE Select | ENSP00000497642.1:n.776-215C>A | |
| ENST00000311322.8:c.776-215C>A | ENSP00000309757.6:n.776-215C>A | |
| NM_000237.2:c.776-215C>A | NP_000228.1:n.776-215C>A | |
| NM_000237.3:c.776-215C>A MANE Select | NP_000228.1:n.776-215C>A |