Linked Data
ClinVar Variation Id:
533616
dbSNP Id:
rs201169336
ExAC:
X:47065409 A / G
gnomAD v2:
X-47065409-A-G
gnomAD v3:
X-47206010-A-G
gnomAD v4:
X-47206010-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47206010A>G , CM000685.2:g.47206010A>G | GRCh38 |
| NC_000023.10:g.47065409A>G , CM000685.1:g.47065409A>G | GRCh37 |
| NC_000023.9:g.46950353A>G | NCBI36 |
| NG_009161.1:g.20211A>G | |
| NG_021353.1:g.6163A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335972.11:c.1638A>G MANE Select | ENSP00000338413.6:p.Thr546= | |
| ENST00000335972.10:c.1638A>G | ENSP00000338413.6:p.Thr546= | |
| ENST00000377351.8:c.1638A>G | ENSP00000366568.4:p.Thr546= | |
| ENST00000490869.1:n.465-68A>G | ||
| NM_003334.3:c.1638A>G | NP_003325.2:p.Thr546= | |
| NM_153280.2:c.1638A>G | NP_695012.1:p.Thr546= | |
| XM_005272649.1:c.1656A>G | XP_005272706.1:p.Thr552= | |
| XM_005272650.1:c.1638A>G | XP_005272707.1:p.Thr546= | |
| XM_011543953.1:c.1722A>G | XP_011542255.1:p.Thr574= | |
| XM_011543954.1:c.1680A>G | XP_011542256.1:p.Thr560= | |
| XM_011543955.1:c.1656A>G | XP_011542257.1:p.Thr552= | |
| XM_011543956.1:c.1638A>G | XP_011542258.1:p.Thr546= | |
| XR_949047.1:n.216-660T>C | ||
| XM_011543954.2:c.1680A>G | XP_011542256.1:p.Thr560= | |
| XM_017029777.1:c.1791A>G | XP_016885266.1:p.Thr597= | |
| XM_017029778.2:c.1722A>G | XP_016885267.1:p.Thr574= | |
| XM_017029779.2:c.1656A>G | XP_016885268.1:p.Thr552= | |
| XM_017029780.1:c.1638A>G | XP_016885269.1:p.Thr546= | |
| XM_017029781.1:c.1638A>G | XP_016885270.1:p.Thr546= | |
| XR_949047.3:n.284-660T>C | ||
| NM_003334.4:c.1638A>G MANE Select | NP_003325.2:p.Thr546= | |
| NM_153280.3:c.1638A>G | NP_695012.1:p.Thr546= |