Linked Data
ClinVar Variation Id:
143786
dbSNP Id:
rs144878564
ExAC:
X:18622936 T / C
gnomAD v2:
X-18622936-T-C
gnomAD v3:
X-18604816-T-C
gnomAD v4:
X-18604816-T-C
PubMed:
PMID:19793311
ERepo:
CA170457/MONDO:0100039/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18604816T>C , CM000685.2:g.18604816T>C | GRCh38 |
| NC_000023.10:g.18622936T>C , CM000685.1:g.18622936T>C | GRCh37 |
| NC_000023.9:g.18532857T>C | NCBI36 |
| NG_008475.1:g.184212T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.1892T>C MANE Select | ENSP00000485244.1:p.Ile631Thr | |
| ENST00000635828.1:c.1892T>C | ENSP00000490170.1:p.Ile631Thr | |
| ENST00000674046.1:c.1892T>C | ENSP00000501174.1:p.Ile631Thr | |
| ENST00000379989.6:c.1892T>C | ENSP00000369325.3:p.Ile631Thr | |
| ENST00000379996.7:c.1892T>C | ENSP00000369332.3:p.Ile631Thr | |
| ENST00000463994.4:c.1892T>C | ENSP00000485184.1:p.Ile631Thr | |
| ENST00000623535.1:c.1892T>C | ENSP00000485244.1:p.Ile631Thr | |
| NM_001037343.1:c.1892T>C | NP_001032420.1:p.Ile631Thr | |
| NM_003159.2:c.1892T>C | NP_003150.1:p.Ile631Thr | |
| XM_011545569.1:c.1841T>C | XP_011543871.1:p.Ile614Thr | |
| XM_011545570.1:c.1760T>C | XP_011543872.1:p.Ile587Thr | |
| XR_950484.1:n.2144T>C | ||
| NM_001323289.1:c.1892T>C | NP_001310218.1:p.Ile631Thr | |
| NM_001323289.2:c.1892T>C MANE Select | NP_001310218.1:p.Ile631Thr | |
| NM_001037343.2:c.1892T>C | NP_001032420.1:p.Ile631Thr | |
| NM_003159.3:c.1892T>C | NP_003150.1:p.Ile631Thr |