Linked Data
ClinVar Variation Id:
2044104
ClinVar RCV Id:
RCV002903433
dbSNP Id:
rs552204837
ExAC:
16:31276742 T / C
gnomAD v2:
16-31276742-T-C
gnomAD v3:
16-31265421-T-C
gnomAD v4:
16-31265421-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31265421T>C , CM000678.2:g.31265421T>C | GRCh38 |
| NC_000016.9:g.31276742T>C , CM000678.1:g.31276742T>C | GRCh37 |
| NC_000016.8:g.31184243T>C | NCBI36 |
| NG_011719.1:g.10455T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544665.9:c.161T>C MANE Select | ENSP00000441691.3:p.Ile54Thr | |
| ENST00000648685.1:c.161T>C | ENSP00000496959.1:p.Ile54Thr | |
| ENST00000287497.12:c.161T>C | ENSP00000287497.8:p.Ile54Thr | |
| ENST00000544665.7:c.161T>C | ENSP00000441691.2:p.Ile54Thr | |
| NM_000632.3:c.161T>C | NP_000623.2:p.Ile54Thr | |
| NM_001145808.1:c.161T>C | NP_001139280.1:p.Ile54Thr | |
| XM_006721045.1:c.161T>C | XP_006721108.1:p.Ile54Thr | |
| XM_011545850.1:c.-55T>C | XP_011544152.1:n.-55T>C | |
| XM_011545851.1:c.161T>C | XP_011544153.1:p.Ile54Thr | |
| XR_950796.1:n.251T>C | ||
| XM_011545850.2:c.-55T>C | XP_011544152.1:n.-55T>C | |
| XM_011545851.2:c.161T>C | XP_011544153.1:p.Ile54Thr | |
| XM_017023216.1:c.161T>C | XP_016878705.1:p.Ile54Thr | |
| NM_000632.4:c.161T>C MANE Select | NP_000623.2:p.Ile54Thr | |
| NM_001145808.2:c.161T>C | NP_001139280.1:p.Ile54Thr |