Linked Data
ClinVar Variation Id:
2393
ClinVar RCV Id:
RCV000002494
dbSNP Id:
rs28941474
ExAC:
6:131894454 T / C
gnomAD v2:
6-131894454-T-C
gnomAD v3:
6-131573314-T-C
gnomAD v4:
6-131573314-T-C
COSMIC:
COSM4423997
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131573314T>C , CM000668.2:g.131573314T>C | GRCh38 |
| NC_000006.11:g.131894454T>C , CM000668.1:g.131894454T>C | GRCh37 |
| NC_000006.10:g.131936147T>C | NCBI36 |
| NG_007086.2:g.5090T>C | |
| NG_031860.1:g.59910A>G | |
| NG_031860.2:g.59910A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368087.8:c.32T>C MANE Select | ENSP00000357066.3:p.Ile11Thr | |
| ENST00000640973.1:c.32T>C | ENSP00000492623.1:p.Ile11Thr | |
| ENST00000672052.1:n.305-3349T>C | ||
| ENST00000672233.1:c.77-5797T>C | ENSP00000499826.1:n.77-5797T>C | |
| ENST00000673234.1:c.77-3349T>C | ENSP00000499885.1:n.77-3349T>C | |
| ENST00000673427.1:c.32T>C | ENSP00000500160.1:p.Ile11Thr | |
| ENST00000275196.5:n.89T>C | ||
| ENST00000356962.2:c.32T>C | ENSP00000349446.2:p.Ile11Thr | |
| ENST00000368087.7:c.32T>C | ENSP00000357066.3:p.Ile11Thr | |
| ENST00000469293.1:n.121T>C | ||
| ENST00000498260.1:n.73T>C | ||
| NM_000045.3:c.32T>C | NP_000036.2:p.Ile11Thr | |
| NM_001244438.1:c.32T>C | NP_001231367.1:p.Ile11Thr | |
| XM_011535801.1:c.32T>C | XP_011534103.1:p.Ile11Thr | |
| XM_011535801.2:c.32T>C | XP_011534103.1:p.Ile11Thr | |
| NM_000045.4:c.32T>C MANE Select | NP_000036.2:p.Ile11Thr | |
| NM_001244438.2:c.32T>C | NP_001231367.1:p.Ile11Thr | |
| NM_001369020.1:c.32T>C | NP_001355949.1:p.Ile11Thr | |
| NR_160934.1:n.89T>C |