Linked Data
ClinVar Variation Id:
424258
ClinVar RCV Id:
RCV000481292
dbSNP Id:
rs1064796884
gnomAD v4:
X-41531102-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41531102C>T , CM000685.2:g.41531102C>T | GRCh38 |
| NC_000023.10:g.41390355C>T , CM000685.1:g.41390355C>T | GRCh37 |
| NC_000023.9:g.41275299C>T | NCBI36 |
| NG_016754.1:g.396933G>A | |
| NG_016754.2:g.396933G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378154.3:c.2374G>A | ENSP00000367396.2:p.Gly792Ser | |
| ENST00000378158.6:c.2371G>A | ENSP00000367400.2:p.Gly791Ser | |
| ENST00000378163.7:c.2425G>A MANE Select | ENSP00000367405.1:p.Gly809Ser | |
| ENST00000378166.9:c.2323G>A | ENSP00000367408.5:p.Gly775Ser | |
| ENST00000378168.8:c.2428G>A | ENSP00000367410.4:p.Gly810Ser | |
| ENST00000378179.9:c.1045G>A | ENSP00000367421.4:p.Gly349Ser | |
| ENST00000421587.8:c.2356G>A | ENSP00000400526.4:p.Gly786Ser | |
| ENST00000442742.7:c.2287G>A | ENSP00000398007.3:p.Gly763Ser | |
| ENST00000642499.1:n.1204G>A | ||
| ENST00000643733.1:c.197G>A | ||
| ENST00000644219.1:c.2407G>A | ENSP00000495357.1:p.Gly803Ser | |
| ENST00000644347.1:c.2338G>A | ENSP00000494183.1:p.Gly780Ser | |
| ENST00000645566.1:c.2410G>A | ENSP00000494788.1:p.Gly804Ser | |
| ENST00000645937.2:n.2656G>A | ||
| ENST00000645986.2:c.2392G>A | ENSP00000494409.2:p.Gly798Ser | |
| ENST00000646087.2:c.1747G>A | ENSP00000495510.2:p.Gly583Ser | |
| ENST00000646120.2:c.2341G>A | ENSP00000495291.2:p.Gly781Ser | |
| ENST00000675354.1:c.2359G>A | ENSP00000502315.1:p.Gly787Ser | |
| ENST00000378158.5:c.2374G>A | ENSP00000367400.1:p.Gly792Ser | |
| ENST00000378163.5:c.2425G>A | ENSP00000367405.1:p.Gly809Ser | |
| ENST00000378166.8:c.2410G>A | ENSP00000367408.4:p.Gly804Ser | |
| ENST00000378168.6:c.790G>A | ENSP00000367410.2:p.Gly264Ser | |
| ENST00000378179.7:c.1201G>A | ENSP00000367421.3:p.Gly401Ser | |
| ENST00000421587.6:c.2338G>A | ENSP00000400526.2:p.Gly780Ser | |
| ENST00000442742.6:c.2341G>A | ENSP00000398007.2:p.Gly781Ser | |
| NM_001126054.2:c.2341G>A | NP_001119526.1:p.Gly781Ser | |
| NM_001126055.2:c.2338G>A | NP_001119527.1:p.Gly780Ser | |
| NM_003688.3:c.2410G>A | NP_003679.2:p.Gly804Ser | |
| XM_005272686.3:c.2407G>A | XP_005272743.1:p.Gly803Ser | |
| XM_006724566.2:c.2302G>A | XP_006724629.1:p.Gly768Ser | |
| XM_011543993.1:c.2425G>A | XP_011542295.1:p.Gly809Ser | |
| XM_011543994.1:c.2389G>A | XP_011542296.1:p.Gly797Ser | |
| XM_011543995.1:c.2356G>A | XP_011542297.1:p.Gly786Ser | |
| XM_011543996.1:c.2320G>A | XP_011542298.1:p.Gly774Ser | |
| XM_011543997.1:c.1852G>A | XP_011542299.1:p.Gly618Ser | |
| XM_005272686.4:c.2407G>A | XP_005272743.1:p.Gly803Ser | |
| XM_006724566.3:c.2302G>A | XP_006724629.1:p.Gly768Ser | |
| XM_011543993.2:c.2425G>A | XP_011542295.1:p.Gly809Ser | |
| XM_011543994.2:c.2389G>A | XP_011542296.1:p.Gly797Ser | |
| XM_011543995.2:c.2356G>A | XP_011542297.1:p.Gly786Ser | |
| XM_011543996.2:c.2320G>A | XP_011542298.1:p.Gly774Ser | |
| XM_011543997.3:c.1852G>A | XP_011542299.1:p.Gly618Ser | |
| XM_024452473.1:c.1747G>A | XP_024308241.1:p.Gly583Ser | |
| NM_001367721.1:c.2425G>A MANE Select | NP_001354650.1:p.Gly809Ser |