Linked Data
ClinVar Variation Id:
746802
ClinVar RCV Id:
RCV000923437
dbSNP Id:
rs1596805723
gnomAD v4:
16-3736722-T-C
MyVariant Identifiers:
chr16:g.3786723T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736722T>C , CM000678.2:g.3736722T>C | GRCh38 |
| NC_000016.9:g.3786723T>C , CM000678.1:g.3786723T>C | GRCh37 |
| NC_000016.8:g.3726724T>C | NCBI36 |
| NG_009873.1:g.148399A>G | |
| NG_009873.2:g.148992A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4488A>G MANE Select | ENSP00000262367.5:p.Pro1496= | |
| ENST00000262367.9:c.4488A>G | ENSP00000262367.5:p.Pro1496= | |
| ENST00000382070.7:c.4374A>G | ENSP00000371502.3:p.Pro1458= | |
| ENST00000570939.2:c.3123A>G | ENSP00000461002.2:p.Pro1041= | |
| ENST00000571763.5:n.278A>G | ||
| ENST00000574740.1:n.309A>G | ||
| ENST00000576720.1:n.3311A>G | ||
| NM_001079846.1:c.4374A>G | NP_001073315.1:p.Pro1458= | |
| NM_004380.2:c.4488A>G | NP_004371.2:p.Pro1496= | |
| XM_005255124.3:c.4443A>G | XP_005255181.1:p.Pro1481= | |
| XM_005255125.3:c.4071A>G | XP_005255182.1:p.Pro1357= | |
| XM_006720848.2:c.4227A>G | XP_006720911.1:p.Pro1409= | |
| XM_011522380.1:c.4434A>G | XP_011520682.1:p.Pro1478= | |
| XM_011522381.1:c.3735A>G | XP_011520683.1:p.Pro1245= | |
| XM_005255124.4:c.4443A>G | XP_005255181.1:p.Pro1481= | |
| XM_005255125.4:c.4071A>G | XP_005255182.1:p.Pro1357= | |
| XM_006720848.3:c.4227A>G | XP_006720911.1:p.Pro1409= | |
| XM_011522381.2:c.3735A>G | XP_011520683.1:p.Pro1245= | |
| XM_017022944.1:c.4482A>G | XP_016878433.1:p.Pro1494= | |
| NM_004380.3:c.4488A>G MANE Select | NP_004371.2:p.Pro1496= |