Linked Data
ClinVar Variation Id:
389123
dbSNP Id:
rs782804501
ExAC:
X:47065466 C / T
gnomAD v2:
X-47065466-C-T
gnomAD v4:
X-47206067-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47206067C>T , CM000685.2:g.47206067C>T | GRCh38 |
| NC_000023.10:g.47065466C>T , CM000685.1:g.47065466C>T | GRCh37 |
| NC_000023.9:g.46950410C>T | NCBI36 |
| NG_009161.1:g.20268C>T | |
| NG_021353.1:g.6220C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335972.11:c.1695C>T MANE Select | ENSP00000338413.6:p.Phe565= | |
| ENST00000335972.10:c.1695C>T | ENSP00000338413.6:p.Phe565= | |
| ENST00000377351.8:c.1695C>T | ENSP00000366568.4:p.Phe565= | |
| ENST00000490869.1:n.465-11C>T | ||
| NM_003334.3:c.1695C>T | NP_003325.2:p.Phe565= | |
| NM_153280.2:c.1695C>T | NP_695012.1:p.Phe565= | |
| XM_005272649.1:c.1713C>T | XP_005272706.1:p.Phe571= | |
| XM_005272650.1:c.1695C>T | XP_005272707.1:p.Phe565= | |
| XM_011543953.1:c.1779C>T | XP_011542255.1:p.Phe593= | |
| XM_011543954.1:c.1737C>T | XP_011542256.1:p.Phe579= | |
| XM_011543955.1:c.1713C>T | XP_011542257.1:p.Phe571= | |
| XM_011543956.1:c.1695C>T | XP_011542258.1:p.Phe565= | |
| XR_949047.1:n.216-717G>A | ||
| XM_011543954.2:c.1737C>T | XP_011542256.1:p.Phe579= | |
| XM_017029777.1:c.1848C>T | XP_016885266.1:p.Phe616= | |
| XM_017029778.2:c.1779C>T | XP_016885267.1:p.Phe593= | |
| XM_017029779.2:c.1713C>T | XP_016885268.1:p.Phe571= | |
| XM_017029780.1:c.1695C>T | XP_016885269.1:p.Phe565= | |
| XM_017029781.1:c.1695C>T | XP_016885270.1:p.Phe565= | |
| XR_949047.3:n.284-717G>A | ||
| NM_003334.4:c.1695C>T MANE Select | NP_003325.2:p.Phe565= | |
| NM_153280.3:c.1695C>T | NP_695012.1:p.Phe565= |