Linked Data
dbSNP Id:
rs1214724201
gnomAD v2:
2-86257247-G-C
gnomAD v3:
2-86030124-G-C
gnomAD v4:
2-86030124-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86030124G>C , CM000664.2:g.86030124G>C | GRCh38 |
| NC_000002.11:g.86257247G>C , CM000664.1:g.86257247G>C | GRCh37 |
| NC_000002.10:g.86110758G>C | NCBI36 |
| NG_050742.2:g.81032C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.4779+72C>G MANE Select | ENSP00000263857.6:n.4779+72C>G | |
| ENST00000263857.10:c.4779+72C>G | ENSP00000263857.6:n.4779+72C>G | |
| ENST00000409681.1:c.4596+72C>G | ENSP00000386300.1:n.4596+72C>G | |
| NM_015425.3:c.4779+72C>G | NP_056240.2:n.4779+72C>G | |
| XM_006711983.2:c.4455+72C>G | XP_006712046.1:n.4455+72C>G | |
| NM_015425.5:c.4779+72C>G | NP_056240.2:n.4779+72C>G | |
| NM_015425.6:c.4779+72C>G MANE Select | NP_056240.2:n.4779+72C>G |