Linked Data
ClinVar Variation Id:
1504479
ClinVar RCV Id:
RCV002047814
dbSNP Id:
rs1020931324
gnomAD v2:
16-16256861-C-T
gnomAD v3:
16-16163004-C-T
gnomAD v4:
16-16163004-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16163004C>T , CM000678.2:g.16163004C>T | GRCh38 |
| NC_000016.9:g.16256861C>T , CM000678.1:g.16256861C>T | GRCh37 |
| NC_000016.8:g.16164362C>T | NCBI36 |
| NG_007558.2:g.65468G>A | |
| NG_007558.3:g.65614G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3495G>A | ENSP00000483331.2:p.Leu1165= | |
| ENST00000205557.12:c.3495G>A MANE Select | ENSP00000205557.7:p.Leu1165= | |
| ENST00000640696.1:c.321-1440G>A | ENSP00000492197.1:n.321-1440G>A | |
| ENST00000205557.11:c.3495G>A | ENSP00000205557.7:p.Leu1165= | |
| ENST00000456970.6:c.3132-1440G>A | ENSP00000405002.2:n.3132-1440G>A | |
| ENST00000622290.4:c.*704G>A | ENSP00000483331.1:n.*704G>A | |
| NM_001171.5:c.3495G>A | NP_001162.4:p.Leu1165= | |
| XM_011522479.1:c.3462G>A | XP_011520781.1:p.Leu1154= | |
| XM_011522480.1:c.3153G>A | XP_011520782.1:p.Leu1051= | |
| XM_011522481.1:c.3153G>A | XP_011520783.1:p.Leu1051= | |
| XR_932836.1:n.3730G>A | ||
| XR_932837.1:n.3543-1440G>A | ||
| XR_932838.1:n.3543-1440G>A | ||
| XR_933133.1:n.407+161C>T | ||
| XR_933134.1:n.754+161C>T | ||
| NM_001351800.1:c.3153G>A | NP_001338729.1:p.Leu1051= | |
| NR_147784.1:n.3169-1440G>A | ||
| XM_011522479.2:c.3462G>A | XP_011520781.1:p.Leu1154= | |
| XM_011522481.3:c.3153G>A | XP_011520783.1:p.Leu1051= | |
| XM_017023212.1:c.3327G>A | XP_016878701.1:p.Leu1109= | |
| XM_017023214.1:c.3307-1440G>A | XP_016878703.1:n.3307-1440G>A | |
| XM_024450261.1:c.3531G>A | XP_024306029.1:p.Leu1177= | |
| XR_932836.2:n.3676G>A | ||
| XR_932837.3:n.3488-1440G>A | ||
| XR_932838.3:n.3488-1440G>A | ||
| NM_001171.6:c.3495G>A MANE Select | NP_001162.5:p.Leu1165= |