Linked Data
ClinVar Variation Id:
2368
dbSNP Id:
rs74315326
gnomAD v2:
1-145416497-T-C
gnomAD v3:
1-146018516-A-G
gnomAD v4:
1-146018516-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.146018516A>G , CM000663.2:g.146018516A>G | GRCh38 |
| NC_000001.10:g.145416497T>C , CM000663.1:g.145416497T>C | GRCh37 |
| NC_000001.9:g.144127854T>C | NCBI36 |
| NG_011568.1:g.8307T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336751.11:c.842T>C MANE Select | ENSP00000337014.5:p.Ile281Thr | |
| ENST00000636675.1:c.164T>C | ENSP00000490072.1:p.Ile55Thr | |
| ENST00000336751.10:c.842T>C | ENSP00000337014.5:p.Ile281Thr | |
| ENST00000357836.5:c.503T>C | ENSP00000350495.5:p.Ile168Thr | |
| ENST00000475797.1:c.164T>C | ENSP00000425716.1:p.Ile55Thr | |
| ENST00000497365.5:c.164T>C | ENSP00000421820.1:p.Ile55Thr | |
| NM_001316767.1:c.164T>C | NP_001303696.1:p.Ile55Thr | |
| NM_145277.4:c.503T>C | NP_660320.3:p.Ile168Thr | |
| NM_202004.3:c.164T>C | NP_973733.1:p.Ile55Thr | |
| NM_213652.3:c.164T>C | NP_998817.1:p.Ile55Thr | |
| NM_213653.3:c.842T>C | NP_998818.1:p.Ile281Thr | |
| XM_005272932.1:c.842T>C | XP_005272989.1:p.Ile281Thr | |
| NM_001316767.2:c.164T>C | NP_001303696.1:p.Ile55Thr | |
| NM_145277.5:c.503T>C | NP_660320.3:p.Ile168Thr | |
| NM_202004.4:c.164T>C | NP_973733.1:p.Ile55Thr | |
| NM_213652.4:c.164T>C | NP_998817.1:p.Ile55Thr | |
| NM_001379352.1:c.842T>C | NP_001366281.1:p.Ile281Thr | |
| NM_213653.4:c.842T>C MANE Select | NP_998818.1:p.Ile281Thr |