Linked Data
ClinVar Variation Id:
455944
dbSNP Id:
rs148643665
ExAC:
X:31462699 C / T
gnomAD v2:
X-31462699-C-T
gnomAD v3:
X-31444582-C-T
gnomAD v4:
X-31444582-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31444582C>T , CM000685.2:g.31444582C>T | GRCh38 |
| NC_000023.10:g.31462699C>T , CM000685.1:g.31462699C>T | GRCh37 |
| NC_000023.9:g.31372620C>T | NCBI36 |
| NG_012232.1:g.1900028G>A , LRG_199:g.1900028G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.3829G>A | ENSP00000350765.3:p.Val1277Ile | |
| ENST00000682238.1:c.1603G>A | ENSP00000508124.1:p.Val535Ile | |
| ENST00000683450.1:n.2448G>A | ||
| ENST00000683957.1:n.2475G>A | ||
| ENST00000684130.1:c.1603G>A | ENSP00000508037.1:p.Val535Ile | |
| ENST00000343523.7:c.838G>A | ENSP00000340057.4:p.Val280Ile | |
| ENST00000357033.9:c.8983G>A MANE Select | ENSP00000354923.3:p.Val2995Ile | |
| ENST00000619831.5:c.4951G>A | ENSP00000479270.2:p.Val1651Ile | |
| ENST00000620040.5:c.1603G>A | ENSP00000478150.2:p.Val535Ile | |
| ENST00000680961.1:c.1603G>A | ENSP00000506386.1:p.Val535Ile | |
| ENST00000681646.1:n.2644G>A | ||
| ENST00000343523.6:c.796G>A | ENSP00000340057.3:p.Val266Ile | |
| ENST00000357033.8:c.8983G>A | ENSP00000354923.3:p.Val2995Ile | |
| ENST00000358062.6:c.2071G>A | ENSP00000350765.2:p.Val691Ile | |
| ENST00000359836.5:c.1603G>A | ENSP00000352894.1:p.Val535Ile | |
| ENST00000378677.6:c.8971G>A | ENSP00000367948.2:p.Val2991Ile | |
| ENST00000378707.7:c.1603G>A | ENSP00000367979.3:p.Val535Ile | |
| ENST00000474231.5:c.1603G>A | ENSP00000417123.1:p.Val535Ile | |
| ENST00000541735.5:c.1603G>A | ENSP00000444119.1:p.Val535Ile | |
| ENST00000619831.4:c.8968G>A | ENSP00000479270.1:p.Val2990Ile | |
| ENST00000620040.4:c.8980G>A | ENSP00000478150.1:p.Val2994Ile | |
| NM_000109.3:c.8959G>A | NP_000100.2:p.Val2987Ile | |
| NM_004006.2:c.8983G>A , LRG_199t1:c.8983G>A | NP_003997.1:p.Val2995Ile | |
| NM_004009.3:c.8971G>A | NP_004000.1:p.Val2991Ile | |
| NM_004010.3:c.8614G>A | NP_004001.1:p.Val2872Ile | |
| NM_004011.3:c.4960G>A | NP_004002.2:p.Val1654Ile | |
| NM_004012.3:c.4951G>A | NP_004003.1:p.Val1651Ile | |
| NM_004013.2:c.1603G>A | NP_004004.1:p.Val535Ile | |
| NM_004014.2:c.796G>A | NP_004005.1:p.Val266Ile | |
| NM_004020.3:c.1603G>A | NP_004011.2:p.Val535Ile | |
| NM_004021.2:c.1603G>A | NP_004012.1:p.Val535Ile | |
| NM_004022.2:c.1603G>A | NP_004013.1:p.Val535Ile | |
| NM_004023.2:c.1603G>A | NP_004014.1:p.Val535Ile | |
| XM_006724468.2:c.8983G>A | XP_006724531.1:p.Val2995Ile | |
| XM_006724469.2:c.8959G>A | XP_006724532.1:p.Val2987Ile | |
| XM_006724470.2:c.8983G>A | XP_006724533.1:p.Val2995Ile | |
| XM_006724471.2:c.8983G>A | XP_006724534.1:p.Val2995Ile | |
| XM_006724472.2:c.8854G>A | XP_006724535.1:p.Val2952Ile | |
| XM_006724473.2:c.8845G>A | XP_006724536.1:p.Val2949Ile | |
| XM_006724474.2:c.8983G>A | XP_006724537.1:p.Val2995Ile | |
| XM_006724475.2:c.8983G>A | XP_006724538.1:p.Val2995Ile | |
| XM_011545467.1:c.8860G>A | XP_011543769.1:p.Val2954Ile | |
| XM_011545468.1:c.8983G>A | XP_011543770.1:p.Val2995Ile | |
| XM_006724469.3:c.8959G>A | XP_006724532.1:p.Val2987Ile | |
| XM_006724470.3:c.8983G>A | XP_006724533.1:p.Val2995Ile | |
| XM_006724474.3:c.8983G>A | XP_006724537.1:p.Val2995Ile | |
| XM_011545468.2:c.8983G>A | XP_011543770.1:p.Val2995Ile | |
| XM_017029328.1:c.8983G>A | XP_016884817.1:p.Val2995Ile | |
| XM_017029331.1:c.3157G>A | XP_016884820.1:p.Val1053Ile | |
| NM_000109.4:c.8959G>A | NP_000100.3:p.Val2987Ile | |
| NM_004006.3:c.8983G>A MANE Select | NP_003997.2:p.Val2995Ile | |
| NM_004011.4:c.4960G>A | NP_004002.3:p.Val1654Ile | |
| NM_004012.4:c.4951G>A | NP_004003.2:p.Val1651Ile | |
| NM_004021.3:c.1603G>A | NP_004012.2:p.Val535Ile | |
| NM_004023.3:c.1603G>A | NP_004014.2:p.Val535Ile | |
| NM_004013.3:c.1603G>A | NP_004004.2:p.Val535Ile | |
| NM_004014.3:c.796G>A | NP_004005.2:p.Val266Ile | |
| NM_004020.4:c.1603G>A | NP_004011.3:p.Val535Ile | |
| NM_004022.3:c.1603G>A | NP_004013.2:p.Val535Ile |