Linked Data
ClinVar Variation Id:
268092
ClinVar RCV Id:
RCV000258799
dbSNP Id:
rs886041049
gnomAD v4:
5-56875268-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56875268G>A , CM000667.2:g.56875268G>A | GRCh38 |
| NC_000005.9:g.56171095G>A , CM000667.1:g.56171095G>A | GRCh37 |
| NC_000005.8:g.56206852G>A | NCBI36 |
| NG_031884.1:g.65196G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399503.4:c.1923G>A MANE Select | ENSP00000382423.3:p.Met641Ile | |
| ENST00000399503.3:c.1923G>A | ENSP00000382423.3:p.Met641Ile | |
| NM_005921.1:c.1923G>A | NP_005912.1:p.Met641Ile | |
| XM_005248519.3:c.1545G>A | XP_005248576.2:p.Met515Ile | |
| XM_011543406.1:c.1668G>A | XP_011541708.1:p.Met556Ile | |
| XM_011543407.1:c.1686+2263G>A | XP_011541709.1:n.1686+2263G>A | |
| XM_011543408.1:c.1923G>A | XP_011541710.1:p.Met641Ile | |
| XM_017009484.1:c.1512G>A | XP_016864973.1:p.Met504Ile | |
| XM_017009485.1:c.1434G>A | XP_016864974.1:p.Met478Ile | |
| XR_001742068.2:n.1954G>A | ||
| NM_005921.2:c.1923G>A MANE Select | NP_005912.1:p.Met641Ile |