Linked Data
ClinVar Variation Id:
1090519
ClinVar RCV Id:
RCV001409703
dbSNP Id:
rs757467123
gnomAD v4:
9-127937488-G-A
MyVariant Identifiers:
chr9:g.130699767G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127937488G>A , CM000671.2:g.127937488G>A | GRCh38 |
| NC_000009.11:g.130699767G>A , CM000671.1:g.130699767G>A | GRCh37 |
| NC_000009.10:g.129739588G>A | NCBI36 |
| NG_032927.1:g.5997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314392.13:c.39C>T MANE Select | ENSP00000322181.8:p.Leu13= | |
| ENST00000314392.12:c.39C>T | ENSP00000322181.8:p.Leu13= | |
| ENST00000373110.4:c.39C>T | ENSP00000362202.4:p.Leu13= | |
| ENST00000470181.1:n.331C>T | ||
| ENST00000473360.1:n.292C>T | ||
| ENST00000495270.1:n.45C>T | ||
| NM_003863.3:c.39C>T | NP_003854.1:p.Leu13= | |
| NM_003863.4:c.39C>T MANE Select | NP_003854.1:p.Leu13= | |
| NM_001378436.1:c.39C>T | NP_001365365.1:p.Leu13= | |
| NM_001378437.1:c.3+330C>T | NP_001365366.1:n.3+330C>T | |
| NR_165631.1:n.73C>T | ||
| NR_165632.1:n.37+330C>T |