Linked Data
dbSNP Id:
rs747709297
ExAC:
X:41379704 G / T
gnomAD v2:
X-41379704-G-T
gnomAD v3:
X-41520451-G-T
gnomAD v4:
X-41520451-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41520451G>T , CM000685.2:g.41520451G>T | GRCh38 |
| NC_000023.10:g.41379704G>T , CM000685.1:g.41379704G>T | GRCh37 |
| NC_000023.9:g.41264648G>T | NCBI36 |
| NG_016754.1:g.407584C>A | |
| NG_016754.2:g.407584C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378154.3:c.2699C>A | ENSP00000367396.2:p.Pro900Gln | |
| ENST00000378158.6:c.2696C>A | ENSP00000367400.2:p.Pro899Gln | |
| ENST00000378163.7:c.2750C>A MANE Select | ENSP00000367405.1:p.Pro917Gln | |
| ENST00000378166.9:c.2648C>A | ENSP00000367408.5:p.Pro883Gln | |
| ENST00000378168.8:c.2753C>A | ENSP00000367410.4:p.Pro918Gln | |
| ENST00000378179.9:c.1370C>A | ENSP00000367421.4:p.Pro457Gln | |
| ENST00000421587.8:c.2681C>A | ENSP00000400526.4:p.Pro894Gln | |
| ENST00000442742.7:c.2612C>A | ENSP00000398007.3:p.Pro871Gln | |
| ENST00000642499.1:n.1529C>A | ||
| ENST00000642641.1:n.909C>A | ||
| ENST00000643733.1:c.549C>A | ||
| ENST00000644219.1:c.2732C>A | ENSP00000495357.1:p.Pro911Gln | |
| ENST00000644347.1:c.2663C>A | ENSP00000494183.1:p.Pro888Gln | |
| ENST00000645566.1:c.2735C>A | ENSP00000494788.1:p.Pro912Gln | |
| ENST00000645937.2:n.2981C>A | ||
| ENST00000645986.2:c.2837C>A | ENSP00000494409.2:p.Pro946Gln | |
| ENST00000646087.2:c.2072C>A | ENSP00000495510.2:p.Pro691Gln | |
| ENST00000646120.2:c.2666C>A | ENSP00000495291.2:p.Pro889Gln | |
| ENST00000675354.1:c.2684C>A | ENSP00000502315.1:p.Pro895Gln | |
| ENST00000378158.5:c.2699C>A | ENSP00000367400.1:p.Pro900Gln | |
| ENST00000378163.5:c.2750C>A | ENSP00000367405.1:p.Pro917Gln | |
| ENST00000378166.8:c.2735C>A | ENSP00000367408.4:p.Pro912Gln | |
| ENST00000378168.6:c.1115C>A | ENSP00000367410.2:p.Pro372Gln | |
| ENST00000378179.7:c.1526C>A | ENSP00000367421.3:p.Pro509Gln | |
| ENST00000421587.6:c.2663C>A | ENSP00000400526.2:p.Pro888Gln | |
| ENST00000442742.6:c.2666C>A | ENSP00000398007.2:p.Pro889Gln | |
| NM_001126054.2:c.2666C>A | NP_001119526.1:p.Pro889Gln | |
| NM_001126055.2:c.2663C>A | NP_001119527.1:p.Pro888Gln | |
| NM_003688.3:c.2735C>A | NP_003679.2:p.Pro912Gln | |
| XM_005272686.3:c.2732C>A | XP_005272743.1:p.Pro911Gln | |
| XM_006724566.2:c.2627C>A | XP_006724629.1:p.Pro876Gln | |
| XM_011543993.1:c.2750C>A | XP_011542295.1:p.Pro917Gln | |
| XM_011543994.1:c.2714C>A | XP_011542296.1:p.Pro905Gln | |
| XM_011543995.1:c.2681C>A | XP_011542297.1:p.Pro894Gln | |
| XM_011543996.1:c.2645C>A | XP_011542298.1:p.Pro882Gln | |
| XM_011543997.1:c.2177C>A | XP_011542299.1:p.Pro726Gln | |
| XM_005272686.4:c.2732C>A | XP_005272743.1:p.Pro911Gln | |
| XM_006724566.3:c.2627C>A | XP_006724629.1:p.Pro876Gln | |
| XM_011543993.2:c.2750C>A | XP_011542295.1:p.Pro917Gln | |
| XM_011543994.2:c.2714C>A | XP_011542296.1:p.Pro905Gln | |
| XM_011543995.2:c.2681C>A | XP_011542297.1:p.Pro894Gln | |
| XM_011543996.2:c.2645C>A | XP_011542298.1:p.Pro882Gln | |
| XM_011543997.3:c.2177C>A | XP_011542299.1:p.Pro726Gln | |
| XM_024452473.1:c.2072C>A | XP_024308241.1:p.Pro691Gln | |
| NM_001367721.1:c.2750C>A MANE Select | NP_001354650.1:p.Pro917Gln |