Linked Data
ClinVar Variation Id:
2088487
ClinVar RCV Id:
RCV003011665
MyVariant Identifiers:
chr1:g.7993340G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7933280G>T , CM000663.2:g.7933280G>T | GRCh38 |
| NC_000001.10:g.7993340G>T , CM000663.1:g.7993340G>T | GRCh37 |
| NC_000001.9:g.7915927G>T | NCBI36 |
| NG_052834.1:g.14886C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377507.8:c.561C>A MANE Select | ENSP00000366729.3:p.Ile187= | |
| ENST00000377507.7:c.561C>A | ENSP00000366729.3:p.Ile187= | |
| ENST00000474475.1:c.105C>A | ENSP00000465272.1:p.Ile35= | |
| ENST00000492571.1:c.431C>A | ENSP00000464978.1:n.431C>A | |
| ENST00000615230.4:c.561C>A | ENSP00000478699.1:p.Ile187= | |
| NM_001561.5:c.561C>A | NP_001552.2:p.Ile187= | |
| XM_006710618.2:c.561C>A | XP_006710681.1:p.Ile187= | |
| XM_011541386.1:c.561C>A | XP_011539688.1:p.Ile187= | |
| XM_006710618.3:c.561C>A | XP_006710681.1:p.Ile187= | |
| XM_011541386.2:c.561C>A | XP_011539688.1:p.Ile187= | |
| NM_001561.6:c.561C>A MANE Select | NP_001552.2:p.Ile187= |