Linked Data
ClinVar Variation Id:
10402
dbSNP Id:
rs76645461
ExAC:
X:153764371 A / G
gnomAD v2:
X-153764371-A-G
gnomAD v3:
X-154536156-A-G
gnomAD v4:
X-154536156-A-G
PubMed:
PMID:8490627
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154536156A>G , CM000685.2:g.154536156A>G | GRCh38 |
| NC_000023.10:g.153764371A>G , CM000685.1:g.153764371A>G | GRCh37 |
| NC_000023.9:g.153417565A>G | NCBI36 |
| NG_009015.2:g.16417T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393564.7:c.143T>C | ENSP00000377194.2:p.Ile48Thr | |
| ENST00000439227.6:c.143T>C | ENSP00000395599.2:p.Ile48Thr | |
| ENST00000696420.1:c.143T>C | ENSP00000512615.1:p.Ile48Thr | |
| ENST00000696421.1:c.143T>C | ENSP00000512616.1:p.Ile48Thr | |
| ENST00000696422.1:c.23T>C | ||
| ENST00000696423.1:c.23T>C | ||
| ENST00000696424.1:c.23T>C | ENSP00000512619.1:p.Ile8Thr | |
| ENST00000696425.1:c.143T>C | ENSP00000512620.1:p.Ile48Thr | |
| ENST00000696426.1:c.143T>C | ENSP00000512621.1:p.Ile48Thr | |
| ENST00000696427.1:c.143T>C | ENSP00000512622.1:p.Ile48Thr | |
| ENST00000696428.1:c.143T>C | ENSP00000512623.1:p.Ile48Thr | |
| ENST00000696429.1:c.143T>C | ENSP00000512624.1:p.Ile48Thr | |
| ENST00000696430.1:c.143T>C | ENSP00000512625.1:p.Ile48Thr | |
| ENST00000696431.1:c.143T>C | ENSP00000512626.1:p.Ile48Thr | |
| ENST00000393562.10:c.143T>C MANE Select | ENSP00000377192.3:p.Ile48Thr | |
| ENST00000369620.6:c.143T>C | ENSP00000358633.2:p.Ile48Thr | |
| ENST00000393562.6:c.233T>C | ENSP00000377192.2:p.Ile78Thr | |
| ENST00000393564.6:c.143T>C | ENSP00000377194.2:p.Ile48Thr | |
| ENST00000433845.1:c.143T>C | ENSP00000394690.1:p.Ile48Thr | |
| ENST00000439227.5:c.143T>C | ENSP00000395599.1:p.Ile48Thr | |
| ENST00000440967.5:c.143T>C | ENSP00000400648.1:p.Ile48Thr | |
| ENST00000488434.1:n.97T>C | ||
| ENST00000497281.5:n.97T>C | ||
| ENST00000621232.4:c.143T>C | ENSP00000483686.1:p.Ile48Thr | |
| NM_000402.4:c.233T>C | NP_000393.4:p.Ile78Thr | |
| NM_001042351.2:c.143T>C | NP_001035810.1:p.Ile48Thr | |
| XM_005274657.2:c.233T>C | XP_005274714.1:p.Ile78Thr | |
| XM_005274658.2:c.143T>C | XP_005274715.1:p.Ile48Thr | |
| XM_011531132.1:c.233T>C | XP_011529434.1:p.Ile78Thr | |
| NM_001360016.2:c.143T>C MANE Select | NP_001346945.1:p.Ile48Thr | |
| NM_001042351.3:c.143T>C | NP_001035810.1:p.Ile48Thr |