Linked Data
dbSNP Id:
rs926918147
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.52322111C>G , CM000676.2:g.52322111C>G | GRCh38 |
| NC_000014.8:g.52788829C>G , CM000676.1:g.52788829C>G | GRCh37 |
| NC_000014.7:g.51858579C>G | NCBI36 |
| NG_013082.1:g.12814C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245457.6:c.844-5110C>G MANE Select | ENSP00000245457.5:n.844-5110C>G | |
| ENST00000245457.5:c.844-5110C>G | ENSP00000245457.5:n.844-5110C>G | |
| ENST00000557436.1:c.79-5110C>G | ENSP00000450933.1:n.79-5110C>G | |
| NM_000956.3:c.844-5110C>G | NP_000947.2:n.844-5110C>G | |
| NM_000956.4:c.844-5110C>G MANE Select | NP_000947.2:n.844-5110C>G |