Linked Data
ClinVar Variation Id:
2291554
ClinVar RCV Id:
RCV002832272
dbSNP Id:
rs749439841
ExAC:
12:46246354 T / C
gnomAD v2:
12-46246354-T-C
gnomAD v4:
12-45852571-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45852571T>C , CM000674.2:g.45852571T>C | GRCh38 |
| NC_000012.11:g.46246354T>C , CM000674.1:g.46246354T>C | GRCh37 |
| NC_000012.10:g.44532621T>C | NCBI36 |
| NG_052800.1:g.127907T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422737.7:c.4448T>C | ENSP00000415650.3:p.Ile1483Thr | |
| ENST00000457135.2:c.657T>C | ||
| ENST00000334344.11:c.4448T>C MANE Select | ENSP00000335044.6:p.Ile1483Thr | |
| ENST00000422737.6:c.4369T>C | ||
| ENST00000334344.10:c.4448T>C | ENSP00000335044.6:p.Ile1483Thr | |
| ENST00000422737.5:c.4001T>C | ENSP00000415650.1:p.Ile1334Thr | |
| ENST00000444670.5:c.3278T>C | ENSP00000397307.1:p.Ile1093Thr | |
| ENST00000457135.1:c.272T>C | ENSP00000388357.1:p.Ile91Thr | |
| ENST00000479608.5:n.3739T>C | ||
| NM_152641.2:c.4448T>C | NP_689854.2:p.Ile1483Thr | |
| XM_006719272.2:c.4448T>C | XP_006719335.1:p.Ile1483Thr | |
| XM_011538025.1:c.2816T>C | XP_011536327.1:p.Ile939Thr | |
| XR_944505.1:n.4596T>C | ||
| NM_001347839.1:c.4448T>C | NP_001334768.1:p.Ile1483Thr | |
| NM_152641.3:c.4448T>C | NP_689854.2:p.Ile1483Thr | |
| XM_006719272.4:c.4448T>C | XP_006719335.1:p.Ile1483Thr | |
| XR_944505.3:n.4579T>C | ||
| NM_152641.4:c.4448T>C MANE Select | NP_689854.2:p.Ile1483Thr | |
| NM_001347839.2:c.4448T>C | NP_001334768.1:p.Ile1483Thr |