Linked Data
dbSNP Id:
rs1292933332
gnomAD v2:
13-47467013-T-C
gnomAD v3:
13-46892878-T-C
gnomAD v4:
13-46892878-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46892878T>C , CM000675.2:g.46892878T>C | GRCh38 |
| NC_000013.10:g.47467013T>C , CM000675.1:g.47467013T>C | GRCh37 |
| NC_000013.9:g.46365014T>C | NCBI36 |
| NG_013011.1:g.9157A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.413-288A>G MANE Select | ENSP00000437737.1:n.413-288A>G | |
| ENST00000543956.5:c.-77-288A>G | ENSP00000441861.2:n.-77-288A>G | |
| ENST00000378688.8:c.413-288A>G | ENSP00000367959.3:n.413-288A>G | |
| ENST00000542664.3:c.413-288A>G | ENSP00000437737.1:n.413-288A>G | |
| ENST00000543956.4:c.161-288A>G | ENSP00000441861.1:n.161-288A>G | |
| NM_000621.4:c.413-288A>G | NP_000612.1:n.413-288A>G | |
| NM_001165947.2:c.161-288A>G | NP_001159419.1:n.161-288A>G | |
| NM_000621.5:c.413-288A>G MANE Select | NP_000612.1:n.413-288A>G | |
| NM_001165947.5:c.-77-288A>G | NP_001159419.2:n.-77-288A>G | |
| NM_001378924.1:c.413-288A>G | NP_001365853.1:n.413-288A>G |