Linked Data
ClinVar Variation Id:
1647325
ClinVar RCV Id:
RCV002139043
dbSNP Id:
rs2129317147
MyVariant Identifiers:
chr7:g.107336401A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107695956A>C , CM000669.2:g.107695956A>C | GRCh38 |
| NC_000007.13:g.107336401A>C , CM000669.1:g.107336401A>C | GRCh37 |
| NC_000007.12:g.107123637A>C | NCBI36 |
| NG_008489.1:g.40322A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1461A>C MANE Select | ENSP00000494017.1:p.Ile487= | |
| ENST00000644846.1:c.172A>C | ||
| ENST00000265715.7:c.1461A>C | ENSP00000265715.3:p.Ile487= | |
| ENST00000460748.1:n.564A>C | ||
| ENST00000477350.5:n.308A>C | ||
| ENST00000480841.5:n.310A>C | ||
| ENST00000497446.5:n.476A>C | ||
| NM_000441.1:c.1461A>C | NP_000432.1:p.Ile487= | |
| XM_005250425.1:c.1461A>C | XP_005250482.1:p.Ile487= | |
| XM_005250425.2:c.1461A>C | XP_005250482.1:p.Ile487= | |
| XM_017012318.1:c.1383A>C | XP_016867807.1:p.Ile461= | |
| NM_000441.2:c.1461A>C MANE Select | NP_000432.1:p.Ile487= |