Linked Data
ClinVar Variation Id:
433450
ClinVar RCV Id:
RCV000499020
dbSNP Id:
rs1357894483
gnomAD v2:
16-16276363-T-C
gnomAD v3:
16-16182506-T-C
gnomAD v4:
16-16182506-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16182506T>C , CM000678.2:g.16182506T>C | GRCh38 |
| NC_000016.9:g.16276363T>C , CM000678.1:g.16276363T>C | GRCh37 |
| NC_000016.8:g.16183864T>C | NCBI36 |
| NG_007558.2:g.45966A>G | |
| NG_007558.3:g.46112A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2153A>G | ENSP00000483331.2:p.Asp718Gly | |
| ENST00000205557.12:c.2153A>G MANE Select | ENSP00000205557.7:p.Asp718Gly | |
| ENST00000205557.11:c.2153A>G | ENSP00000205557.7:p.Asp718Gly | |
| ENST00000456970.6:c.2153A>G | ENSP00000405002.2:p.Asp718Gly | |
| ENST00000574094.5:n.2040-581A>G | ||
| ENST00000622290.4:c.2153A>G | ENSP00000483331.1:p.Asp718Gly | |
| NM_001171.5:c.2153A>G | NP_001162.4:p.Asp718Gly | |
| XM_011522479.1:c.2153A>G | XP_011520781.1:p.Asp718Gly | |
| XM_011522480.1:c.1811A>G | XP_011520782.1:p.Asp604Gly | |
| XM_011522481.1:c.1811A>G | XP_011520783.1:p.Asp604Gly | |
| XM_011522482.1:c.2153A>G | XP_011520784.1:p.Asp718Gly | |
| XR_932836.1:n.2388A>G | ||
| XR_932837.1:n.2389A>G | ||
| XR_932838.1:n.2389A>G | ||
| NM_001351800.1:c.1811A>G | NP_001338729.1:p.Asp604Gly | |
| NR_147784.1:n.2190A>G | ||
| XM_011522479.2:c.2153A>G | XP_011520781.1:p.Asp718Gly | |
| XM_011522481.3:c.1811A>G | XP_011520783.1:p.Asp604Gly | |
| XM_011522482.3:c.2153A>G | XP_011520784.1:p.Asp718Gly | |
| XM_017023212.1:c.2153A>G | XP_016878701.1:p.Asp718Gly | |
| XM_017023214.1:c.2153A>G | XP_016878703.1:p.Asp718Gly | |
| XM_024450261.1:c.2189A>G | XP_024306029.1:p.Asp730Gly | |
| XR_932836.2:n.2334A>G | ||
| XR_932837.3:n.2334A>G | ||
| XR_932838.3:n.2334A>G | ||
| NM_001171.6:c.2153A>G MANE Select | NP_001162.5:p.Asp718Gly |