Linked Data
ClinVar Variation Id:
1396503
ClinVar RCV Id:
RCV001919979
dbSNP Id:
rs782580503
ExAC:
X:153596077 C / T
gnomAD v2:
X-153596077-C-T
gnomAD v3:
X-154367709-C-T
gnomAD v4:
X-154367709-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154367709C>T , CM000685.2:g.154367709C>T | GRCh38 |
| NC_000023.10:g.153596077C>T , CM000685.1:g.153596077C>T | GRCh37 |
| NC_000023.9:g.153249271C>T | NCBI36 |
| NG_011506.1:g.11930G>A | |
| NG_011506.2:g.11930G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.652G>A | ENSP00000353467.4:p.Ala218Thr | |
| ENST00000369850.10:c.652G>A MANE Select | ENSP00000358866.3:p.Ala218Thr | |
| ENST00000369856.8:c.571G>A | ENSP00000358872.4:p.Ala191Thr | |
| ENST00000422373.6:c.652G>A | ENSP00000416926.2:p.Ala218Thr | |
| ENST00000610817.5:c.652G>A | ENSP00000480593.2:p.Ala218Thr | |
| ENST00000676696.1:c.652G>A | ENSP00000503392.1:p.Ala218Thr | |
| ENST00000344736.8:c.652G>A | ENSP00000358863.3:p.Ala218Thr | |
| ENST00000360319.8:c.652G>A | ENSP00000353467.4:p.Ala218Thr | |
| ENST00000369850.7:c.652G>A | ENSP00000358866.3:p.Ala218Thr | |
| ENST00000369856.7:c.571G>A | ENSP00000358872.4:p.Ala191Thr | |
| ENST00000420627.5:c.610G>A | ENSP00000408921.1:p.Ala204Thr | |
| ENST00000422373.5:c.652G>A | ENSP00000416926.1:p.Ala218Thr | |
| ENST00000610817.4:c.571G>A | ENSP00000480593.1:p.Ala191Thr | |
| NM_001110556.1:c.652G>A | NP_001104026.1:p.Ala218Thr | |
| NM_001456.3:c.652G>A | NP_001447.2:p.Ala218Thr | |
| XM_011531127.1:c.652G>A | XP_011529429.1:p.Ala218Thr | |
| XM_011531128.1:c.652G>A | XP_011529430.1:p.Ala218Thr | |
| XM_011531129.1:c.652G>A | XP_011529431.1:p.Ala218Thr | |
| XM_011531130.1:c.652G>A | XP_011529432.1:p.Ala218Thr | |
| XM_011531131.1:c.652G>A | XP_011529433.1:p.Ala218Thr | |
| NM_001110556.2:c.652G>A MANE Select | NP_001104026.1:p.Ala218Thr | |
| NM_001456.4:c.652G>A | NP_001447.2:p.Ala218Thr |