Linked Data
ClinVar Variation Id:
1106016
ClinVar RCV Id:
RCV001430638
dbSNP Id:
rs1347133721
gnomAD v2:
9-95481157-C-T
gnomAD v3:
9-92718875-C-T
gnomAD v4:
9-92718875-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92718875C>T , CM000671.2:g.92718875C>T | GRCh38 |
| NC_000009.11:g.95481157C>T , CM000671.1:g.95481157C>T | GRCh37 |
| NC_000009.10:g.94520978C>T | NCBI36 |
| NG_033908.1:g.50927G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1770G>A MANE Select | ENSP00000349351.6:p.Leu590= | |
| ENST00000356884.10:c.1770G>A | ENSP00000349351.6:p.Leu590= | |
| ENST00000375512.3:c.1770G>A | ENSP00000364662.3:p.Leu590= | |
| NM_001003800.1:c.1770G>A | NP_001003800.1:p.Leu590= | |
| NM_015250.3:c.1770G>A | NP_056065.1:p.Leu590= | |
| XM_017014551.1:c.1851G>A | XP_016870040.1:p.Leu617= | |
| NM_001003800.2:c.1770G>A MANE Select | NP_001003800.1:p.Leu590= | |
| NM_015250.4:c.1770G>A | NP_056065.1:p.Leu590= |