Linked Data
dbSNP Id:
rs2068330
gnomAD v2:
2-163237390-C-G
gnomAD v3:
2-162380880-C-G
gnomAD v4:
2-162380880-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162380880C>G , CM000664.2:g.162380880C>G | GRCh38 |
| NC_000002.11:g.163237390C>G , CM000664.1:g.163237390C>G | GRCh37 |
| NC_000002.10:g.162945636C>G | NCBI36 |
| NG_041938.1:g.462868G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332142.10:c.2963-859G>C MANE Select | ENSP00000331727.5:n.2963-859G>C | |
| ENST00000332142.9:c.2963-859G>C | ENSP00000331727.5:n.2963-859G>C | |
| ENST00000618399.4:c.2663-859G>C | ENSP00000482818.1:n.2663-859G>C | |
| NM_033272.3:c.2963-859G>C | NP_150375.2:n.2963-859G>C | |
| XM_011512109.1:c.2987-859G>C | XP_011510411.1:n.2987-859G>C | |
| XM_011512109.3:c.2987-859G>C | XP_011510411.1:n.2987-859G>C | |
| XM_017005218.2:c.2978-859G>C | XP_016860707.1:n.2978-859G>C | |
| XM_017005219.2:c.2954-859G>C | XP_016860708.1:n.2954-859G>C | |
| XM_017005220.2:c.2942-859G>C | XP_016860709.1:n.2942-859G>C | |
| NM_033272.4:c.2963-859G>C MANE Select | NP_150375.2:n.2963-859G>C |