Linked Data
dbSNP Id:
rs2035748895
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949721T>C , CM000685.2:g.43949721T>C | GRCh38 |
| NC_000023.10:g.43808967T>C , CM000685.1:g.43808967T>C | GRCh37 |
| NC_000023.9:g.43693911T>C | NCBI36 |
| NG_009832.1:g.28955A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.*78A>G MANE Select | ENSP00000495972.1:n.*78A>G | |
| ENST00000647044.1:c.*78A>G | ENSP00000495811.1:n.*78A>G | |
| ENST00000378062.5:c.*78A>G | ENSP00000367301.5:n.*78A>G | |
| ENST00000470584.1:n.524A>G | ||
| NM_000266.3:c.*78A>G | NP_000257.1:n.*78A>G | |
| NM_000266.4:c.*78A>G MANE Select | NP_000257.1:n.*78A>G |