Linked Data
dbSNP Id:
rs782131269
ExAC:
X:153063560 C / T
gnomAD v2:
X-153063560-C-T
gnomAD v4:
X-153798105-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153798105C>T , CM000685.2:g.153798105C>T | GRCh38 |
| NC_000023.10:g.153063560C>T , CM000685.1:g.153063560C>T | GRCh37 |
| NC_000023.9:g.152716754C>T | NCBI36 |
| NG_041795.1:g.8931C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370086.8:c.386C>T MANE Select | ENSP00000359103.3:p.Pro129Leu | |
| ENST00000320857.7:c.386C>T | ENSP00000317331.3:p.Pro129Leu | |
| ENST00000370085.3:c.311C>T | ENSP00000359102.3:p.Pro104Leu | |
| ENST00000370086.7:c.386C>T | ENSP00000359103.3:p.Pro129Leu | |
| ENST00000370087.5:c.386C>T | ENSP00000359104.1:p.Pro129Leu | |
| ENST00000447375.1:n.226C>T | ||
| ENST00000460616.5:n.2094C>T | ||
| ENST00000471880.5:n.589C>T | ||
| ENST00000482902.5:n.2213C>T | ||
| ENST00000485612.5:n.501C>T | ||
| ENST00000486204.5:n.458C>T | ||
| NM_001204526.1:c.419C>T | NP_001191455.1:p.Pro140Leu | |
| NM_001204527.1:c.410C>T | NP_001191456.1:p.Pro137Leu | |
| NM_006280.2:c.386C>T | NP_006271.1:p.Pro129Leu | |
| NR_037927.1:n.731C>T | ||
| XM_011531186.1:c.386C>T | XP_011529488.1:p.Pro129Leu | |
| XM_011531187.1:c.386C>T | XP_011529489.1:p.Pro129Leu | |
| XM_017029756.1:c.197C>T | XP_016885245.1:p.Pro66Leu | |
| XM_017029757.1:c.197C>T | XP_016885246.1:p.Pro66Leu | |
| XM_024452428.1:c.197C>T | XP_024308196.1:p.Pro66Leu | |
| NM_001204527.2:c.410C>T | NP_001191456.1:p.Pro137Leu | |
| NM_006280.3:c.386C>T MANE Select | NP_006271.1:p.Pro129Leu |