Linked Data
dbSNP Id:
rs1047667821
gnomAD v2:
5-54528904-A-C
gnomAD v3:
5-55233076-A-C
gnomAD v4:
5-55233076-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233076A>C , CM000667.2:g.55233076A>C | GRCh38 |
| NC_000005.9:g.54528904A>C , CM000667.1:g.54528904A>C | GRCh37 |
| NC_000005.8:g.54564661A>C | NCBI36 |
| NG_034201.1:g.5642T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+67T>G MANE Select | ENSP00000282572.4:n.381+67T>G | |
| ENST00000282572.4:c.381+67T>G | ENSP00000282572.4:n.381+67T>G | |
| ENST00000501463.2:c.*52T>G | ENSP00000422485.1:n.*52T>G | |
| NM_021147.4:c.381+67T>G | NP_066970.3:n.381+67T>G | |
| NR_125346.1:n.642T>G | ||
| NR_125347.1:n.580+62T>G | ||
| NM_021147.5:c.381+67T>G MANE Select | NP_066970.3:n.381+67T>G | |
| NR_125346.2:n.533T>G | ||
| NR_125347.2:n.471+62T>G |