Linked Data
ClinVar Variation Id:
1584635
ClinVar RCV Id:
RCV002102732
dbSNP Id:
rs201136733
ExAC:
11:22646886 G / T
gnomAD v2:
11-22646886-G-T
gnomAD v3:
11-22625340-G-T
gnomAD v4:
11-22625340-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625340G>T , CM000673.2:g.22625340G>T | GRCh38 |
| NC_000011.9:g.22646886G>T , CM000673.1:g.22646886G>T | GRCh37 |
| NC_000011.8:g.22603462G>T | NCBI36 |
| NG_007425.1:g.5502C>A , LRG_527:g.5502C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.471C>A MANE Select | ENSP00000330875.3:p.Leu157= | |
| ENST00000327470.4:c.471C>A | ENSP00000330875.3:p.Leu157= | |
| NM_022725.3:c.471C>A , LRG_527t1:c.471C>A | NP_073562.1:p.Leu157= | |
| NM_022725.4:c.471C>A MANE Select | NP_073562.1:p.Leu157= |