Linked Data
ClinVar Variation Id:
2019154
ClinVar RCV Id:
RCV002846888
dbSNP Id:
rs1855063562
gnomAD v4:
11-66211217-G-A
MyVariant Identifiers:
chr11:g.65978688G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211217G>A , CM000673.2:g.66211217G>A | GRCh38 |
| NC_000011.9:g.65978688G>A , CM000673.1:g.65978688G>A | GRCh37 |
| NC_000011.8:g.65735264G>A | NCBI36 |
| NG_033900.1:g.145865G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.618G>A MANE Select | ENSP00000316454.4:p.Leu206= | |
| ENST00000320580.8:c.618G>A | ENSP00000316454.4:p.Leu206= | |
| ENST00000527224.1:n.742G>A | ||
| ENST00000527380.1:c.324G>A | ENSP00000432639.1:p.Leu108= | |
| ENST00000533756.5:c.309G>A | ENSP00000437150.1:p.Leu103= | |
| NM_018026.3:c.618G>A | NP_060496.2:p.Leu206= | |
| XM_011545162.1:c.297G>A | XP_011543464.1:p.Leu99= | |
| XM_011545163.1:c.288G>A | XP_011543465.1:p.Leu96= | |
| XM_011545164.1:c.279G>A | XP_011543466.1:p.Leu93= | |
| XM_011545164.2:c.279G>A | XP_011543466.1:p.Leu93= | |
| XR_001747924.1:n.829G>A | ||
| NM_018026.4:c.618G>A MANE Select | NP_060496.2:p.Leu206= |