Linked Data
dbSNP Id:
rs1575710698
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875257T>G , CM000664.2:g.240875257T>G | GRCh38 |
| NC_000002.11:g.241814674T>G , CM000664.1:g.241814674T>G | GRCh37 |
| NC_000002.10:g.241463347T>G | NCBI36 |
| NG_008005.1:g.11513T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.776+53T>G MANE Select | ENSP00000302620.3:n.776+53T>G | |
| ENST00000307503.3:c.776+53T>G | ENSP00000302620.3:n.776+53T>G | |
| ENST00000476698.1:n.428+53T>G | ||
| NM_000030.2:c.776+53T>G | NP_000021.1:n.776+53T>G | |
| NM_000030.3:c.776+53T>G MANE Select | NP_000021.1:n.776+53T>G |