Linked Data
ClinVar Variation Id:
755803
ClinVar RCV Id:
RCV000933258
dbSNP Id:
rs587783498
ExAC:
16:3786644 C / G
gnomAD v2:
16-3786644-C-G
gnomAD v3:
16-3736643-C-G
gnomAD v4:
16-3736643-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736643C>G , CM000678.2:g.3736643C>G | GRCh38 |
| NC_000016.9:g.3786644C>G , CM000678.1:g.3786644C>G | GRCh37 |
| NC_000016.8:g.3726645C>G | NCBI36 |
| NG_009873.1:g.148478G>C | |
| NG_009873.2:g.149071G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.4560+7G>C MANE Select | ENSP00000262367.5:n.4560+7G>C | |
| ENST00000262367.9:c.4560+7G>C | ENSP00000262367.5:n.4560+7G>C | |
| ENST00000382070.7:c.4446+7G>C | ENSP00000371502.3:n.4446+7G>C | |
| ENST00000570939.2:c.3195+7G>C | ENSP00000461002.2:n.3195+7G>C | |
| ENST00000571763.5:n.350+7G>C | ||
| ENST00000574740.1:n.388G>C | ||
| ENST00000576720.1:n.3383+7G>C | ||
| NM_001079846.1:c.4446+7G>C | NP_001073315.1:n.4446+7G>C | |
| NM_004380.2:c.4560+7G>C | NP_004371.2:n.4560+7G>C | |
| XM_005255124.3:c.4515+7G>C | XP_005255181.1:n.4515+7G>C | |
| XM_005255125.3:c.4143+7G>C | XP_005255182.1:n.4143+7G>C | |
| XM_006720848.2:c.4299+7G>C | XP_006720911.1:n.4299+7G>C | |
| XM_011522380.1:c.4506+7G>C | XP_011520682.1:n.4506+7G>C | |
| XM_011522381.1:c.3807+7G>C | XP_011520683.1:n.3807+7G>C | |
| XM_005255124.4:c.4515+7G>C | XP_005255181.1:n.4515+7G>C | |
| XM_005255125.4:c.4143+7G>C | XP_005255182.1:n.4143+7G>C | |
| XM_006720848.3:c.4299+7G>C | XP_006720911.1:n.4299+7G>C | |
| XM_011522381.2:c.3807+7G>C | XP_011520683.1:n.3807+7G>C | |
| XM_017022944.1:c.4554+7G>C | XP_016878433.1:n.4554+7G>C | |
| NM_004380.3:c.4560+7G>C MANE Select | NP_004371.2:n.4560+7G>C |