Linked Data
dbSNP Id:
rs1812450241
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118939550G>T , CM000670.2:g.118939550G>T | GRCh38 |
| NC_000008.10:g.119951789G>T , CM000670.1:g.119951789G>T | GRCh37 |
| NC_000008.9:g.120020970G>T | NCBI36 |
| NG_012202.1:g.17595C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297350.9:c.31-6250C>A MANE Select | ENSP00000297350.4:n.31-6250C>A | |
| ENST00000297350.8:c.31-6250C>A | ENSP00000297350.4:n.31-6250C>A | |
| ENST00000517352.1:c.31-6250C>A | ENSP00000427924.1:n.31-6250C>A | |
| NM_002546.3:c.31-6250C>A | NP_002537.3:n.31-6250C>A | |
| NM_002546.4:c.31-6250C>A MANE Select | NP_002537.3:n.31-6250C>A |