Linked Data
ClinVar Variation Id:
2152112
ClinVar RCV Id:
RCV003061582
dbSNP Id:
rs996280072
gnomAD v4:
16-3728075-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728075C>T , CM000678.2:g.3728075C>T | GRCh38 |
| NC_000016.9:g.3778076C>T , CM000678.1:g.3778076C>T | GRCh37 |
| NC_000016.8:g.3718077C>T | NCBI36 |
| NG_009873.1:g.157046G>A | |
| NG_009873.2:g.157639G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6972G>A MANE Select | ENSP00000262367.5:p.Gln2324= | |
| ENST00000262367.9:c.6972G>A | ENSP00000262367.5:p.Gln2324= | |
| ENST00000382070.7:c.6858G>A | ENSP00000371502.3:p.Gln2286= | |
| NM_001079846.1:c.6858G>A | NP_001073315.1:p.Gln2286= | |
| NM_004380.2:c.6972G>A | NP_004371.2:p.Gln2324= | |
| XM_005255124.3:c.6927G>A | XP_005255181.1:p.Gln2309= | |
| XM_005255125.3:c.6555G>A | XP_005255182.1:p.Gln2185= | |
| XM_006720848.2:c.6711G>A | XP_006720911.1:p.Gln2237= | |
| XM_011522380.1:c.6918G>A | XP_011520682.1:p.Gln2306= | |
| XM_011522381.1:c.6219G>A | XP_011520683.1:p.Gln2073= | |
| XM_005255124.4:c.6927G>A | XP_005255181.1:p.Gln2309= | |
| XM_005255125.4:c.6555G>A | XP_005255182.1:p.Gln2185= | |
| XM_006720848.3:c.6711G>A | XP_006720911.1:p.Gln2237= | |
| XM_011522381.2:c.6219G>A | XP_011520683.1:p.Gln2073= | |
| XM_017022944.1:c.6966G>A | XP_016878433.1:p.Gln2322= | |
| NM_004380.3:c.6972G>A MANE Select | NP_004371.2:p.Gln2324= |