Linked Data
ClinVar Variation Id:
143778
dbSNP Id:
rs201893287
ExAC:
X:18622567 T / C
gnomAD v2:
X-18622567-T-C
gnomAD v3:
X-18604447-T-C
gnomAD v4:
X-18604447-T-C
ERepo:
CA170449/MONDO:0100039/016
PubMed:
PMID:20479760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18604447T>C , CM000685.2:g.18604447T>C | GRCh38 |
| NC_000023.10:g.18622567T>C , CM000685.1:g.18622567T>C | GRCh37 |
| NC_000023.9:g.18532488T>C | NCBI36 |
| NG_008475.1:g.183843T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.1523T>C MANE Select | ENSP00000485244.1:p.Ile508Thr | |
| ENST00000635828.1:c.1523T>C | ENSP00000490170.1:p.Ile508Thr | |
| ENST00000674046.1:c.1523T>C | ENSP00000501174.1:p.Ile508Thr | |
| ENST00000379989.6:c.1523T>C | ENSP00000369325.3:p.Ile508Thr | |
| ENST00000379996.7:c.1523T>C | ENSP00000369332.3:p.Ile508Thr | |
| ENST00000463994.4:c.1523T>C | ENSP00000485184.1:p.Ile508Thr | |
| ENST00000623535.1:c.1523T>C | ENSP00000485244.1:p.Ile508Thr | |
| NM_001037343.1:c.1523T>C | NP_001032420.1:p.Ile508Thr | |
| NM_003159.2:c.1523T>C | NP_003150.1:p.Ile508Thr | |
| XM_011545569.1:c.1472T>C | XP_011543871.1:p.Ile491Thr | |
| XM_011545570.1:c.1391T>C | XP_011543872.1:p.Ile464Thr | |
| XR_950484.1:n.1775T>C | ||
| NM_001323289.1:c.1523T>C | NP_001310218.1:p.Ile508Thr | |
| NM_001323289.2:c.1523T>C MANE Select | NP_001310218.1:p.Ile508Thr | |
| NM_001037343.2:c.1523T>C | NP_001032420.1:p.Ile508Thr | |
| NM_003159.3:c.1523T>C | NP_003150.1:p.Ile508Thr |