Linked Data
ClinVar Variation Id:
2147853
ClinVar RCV Id:
RCV003068557
dbSNP Id:
rs1303444757
gnomAD v2:
16-3786746-G-T
gnomAD v3:
16-3736745-G-T
gnomAD v4:
16-3736745-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736745G>T , CM000678.2:g.3736745G>T | GRCh38 |
| NC_000016.9:g.3786746G>T , CM000678.1:g.3786746G>T | GRCh37 |
| NC_000016.8:g.3726747G>T | NCBI36 |
| NG_009873.1:g.148376C>A | |
| NG_009873.2:g.148969C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4465C>A MANE Select | ENSP00000262367.5:p.Pro1489Thr | |
| ENST00000262367.9:c.4465C>A | ENSP00000262367.5:p.Pro1489Thr | |
| ENST00000382070.7:c.4351C>A | ENSP00000371502.3:p.Pro1451Thr | |
| ENST00000570939.2:c.3100C>A | ENSP00000461002.2:p.Pro1034Thr | |
| ENST00000571763.5:n.255C>A | ||
| ENST00000574740.1:n.286C>A | ||
| ENST00000576720.1:n.3288C>A | ||
| NM_001079846.1:c.4351C>A | NP_001073315.1:p.Pro1451Thr | |
| NM_004380.2:c.4465C>A | NP_004371.2:p.Pro1489Thr | |
| XM_005255124.3:c.4420C>A | XP_005255181.1:p.Pro1474Thr | |
| XM_005255125.3:c.4048C>A | XP_005255182.1:p.Pro1350Thr | |
| XM_006720848.2:c.4204C>A | XP_006720911.1:p.Pro1402Thr | |
| XM_011522380.1:c.4411C>A | XP_011520682.1:p.Pro1471Thr | |
| XM_011522381.1:c.3712C>A | XP_011520683.1:p.Pro1238Thr | |
| XM_005255124.4:c.4420C>A | XP_005255181.1:p.Pro1474Thr | |
| XM_005255125.4:c.4048C>A | XP_005255182.1:p.Pro1350Thr | |
| XM_006720848.3:c.4204C>A | XP_006720911.1:p.Pro1402Thr | |
| XM_011522381.2:c.3712C>A | XP_011520683.1:p.Pro1238Thr | |
| XM_017022944.1:c.4459C>A | XP_016878433.1:p.Pro1487Thr | |
| NM_004380.3:c.4465C>A MANE Select | NP_004371.2:p.Pro1489Thr |