Linked Data
dbSNP Id:
rs753046728
gnomAD v2:
13-47440487-G-C
gnomAD v3:
13-46866352-G-C
gnomAD v4:
13-46866352-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46866352G>C , CM000675.2:g.46866352G>C | GRCh38 |
| NC_000013.10:g.47440487G>C , CM000675.1:g.47440487G>C | GRCh37 |
| NC_000013.9:g.46338488G>C | NCBI36 |
| NG_013011.1:g.35683C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542664.4:c.613+26038C>G MANE Select | ENSP00000437737.1:n.613+26038C>G | |
| ENST00000543956.5:c.124+26038C>G | ENSP00000441861.2:n.124+26038C>G | |
| ENST00000378688.8:c.613+26038C>G | ENSP00000367959.3:n.613+26038C>G | |
| ENST00000542664.3:c.613+26038C>G | ENSP00000437737.1:n.613+26038C>G | |
| ENST00000543956.4:c.361+26038C>G | ENSP00000441861.1:n.361+26038C>G | |
| NM_000621.4:c.613+26038C>G | NP_000612.1:n.613+26038C>G | |
| NM_001165947.2:c.361+26038C>G | NP_001159419.1:n.361+26038C>G | |
| NM_000621.5:c.613+26038C>G MANE Select | NP_000612.1:n.613+26038C>G | |
| NM_001165947.5:c.124+26038C>G | NP_001159419.2:n.124+26038C>G | |
| NM_001378924.1:c.613+26038C>G | NP_001365853.1:n.613+26038C>G |