Linked Data
dbSNP Id:
rs2041192577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97611170C>A , CM000672.2:g.97611170C>A | GRCh38 |
| NC_000010.10:g.99370927C>A , CM000672.1:g.99370927C>A | GRCh37 |
| NC_000010.9:g.99360917C>A | NCBI36 |
| NG_027922.1:g.31826C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.835-340C>A MANE Select | ENSP00000359680.4:n.835-340C>A | |
| ENST00000370646.8:c.835-340C>A | ENSP00000359680.4:n.835-340C>A | |
| ENST00000370647.8:c.346-340C>A | ENSP00000359681.4:n.346-340C>A | |
| ENST00000370649.3:c.345+9180C>A | ENSP00000359683.3:n.345+9180C>A | |
| NM_001134670.1:c.346-340C>A | NP_001128142.1:n.346-340C>A | |
| NM_138413.3:c.835-340C>A | NP_612422.2:n.835-340C>A | |
| NM_138413.4:c.835-340C>A MANE Select | NP_612422.2:n.835-340C>A | |
| NM_001134670.2:c.346-340C>A | NP_001128142.1:n.346-340C>A |