Linked Data
dbSNP Id:
rs1434218409
gnomAD v2:
5-56171404-A-C
gnomAD v3:
5-56875577-A-C
gnomAD v4:
5-56875577-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56875577A>C , CM000667.2:g.56875577A>C | GRCh38 |
| NC_000005.9:g.56171404A>C , CM000667.1:g.56171404A>C | GRCh37 |
| NC_000005.8:g.56207161A>C | NCBI36 |
| NG_031884.1:g.65505A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.1965+267A>C MANE Select | ENSP00000382423.3:n.1965+267A>C | |
| ENST00000399503.3:c.1965+267A>C | ENSP00000382423.3:n.1965+267A>C | |
| NM_005921.1:c.1965+267A>C | NP_005912.1:n.1965+267A>C | |
| XM_005248519.3:c.1587+267A>C | XP_005248576.2:n.1587+267A>C | |
| XM_011543406.1:c.1710+267A>C | XP_011541708.1:n.1710+267A>C | |
| XM_011543407.1:c.1686+2572A>C | XP_011541709.1:n.1686+2572A>C | |
| XM_011543408.1:c.1965+267A>C | XP_011541710.1:n.1965+267A>C | |
| XM_017009484.1:c.1554+267A>C | XP_016864973.1:n.1554+267A>C | |
| XM_017009485.1:c.1476+267A>C | XP_016864974.1:n.1476+267A>C | |
| XR_001742068.2:n.1996+267A>C | ||
| NM_005921.2:c.1965+267A>C MANE Select | NP_005912.1:n.1965+267A>C |