Linked Data
ClinVar Variation Id:
796811
ClinVar RCV Id:
RCV000980235
dbSNP Id:
rs781828321
ExAC:
X:47058761 T / G
gnomAD v2:
X-47058761-T-G
gnomAD v4:
X-47199362-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47199362T>G , CM000685.2:g.47199362T>G | GRCh38 |
| NC_000023.10:g.47058761T>G , CM000685.1:g.47058761T>G | GRCh37 |
| NC_000023.9:g.46943705T>G | NCBI36 |
| NG_009161.1:g.13563T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335972.11:c.330T>G MANE Select | ENSP00000338413.6:p.Ala110= | |
| ENST00000335972.10:c.330T>G | ENSP00000338413.6:p.Ala110= | |
| ENST00000377351.8:c.330T>G | ENSP00000366568.4:p.Ala110= | |
| ENST00000412206.5:c.330T>G | ENSP00000415033.1:p.Ala110= | |
| ENST00000427561.5:c.372T>G | ENSP00000397816.1:p.Ala124= | |
| ENST00000442035.5:c.372T>G | ENSP00000389583.1:p.Ala124= | |
| ENST00000451702.2:c.483T>G | ENSP00000401101.1:p.Ala161= | |
| ENST00000457753.5:c.483T>G | ENSP00000404796.1:p.Ala161= | |
| NM_003334.3:c.330T>G | NP_003325.2:p.Ala110= | |
| NM_153280.2:c.330T>G | NP_695012.1:p.Ala110= | |
| XM_005272649.1:c.348T>G | XP_005272706.1:p.Ala116= | |
| XM_005272650.1:c.330T>G | XP_005272707.1:p.Ala110= | |
| XM_011543953.1:c.414T>G | XP_011542255.1:p.Ala138= | |
| XM_011543954.1:c.372T>G | XP_011542256.1:p.Ala124= | |
| XM_011543955.1:c.348T>G | XP_011542257.1:p.Ala116= | |
| XM_011543956.1:c.330T>G | XP_011542258.1:p.Ala110= | |
| XM_011543954.2:c.372T>G | XP_011542256.1:p.Ala124= | |
| XM_017029777.1:c.483T>G | XP_016885266.1:p.Ala161= | |
| XM_017029778.2:c.414T>G | XP_016885267.1:p.Ala138= | |
| XM_017029779.2:c.348T>G | XP_016885268.1:p.Ala116= | |
| XM_017029780.1:c.330T>G | XP_016885269.1:p.Ala110= | |
| XM_017029781.1:c.330T>G | XP_016885270.1:p.Ala110= | |
| NM_003334.4:c.330T>G MANE Select | NP_003325.2:p.Ala110= | |
| NM_153280.3:c.330T>G | NP_695012.1:p.Ala110= |