Linked Data
ClinVar Variation Id:
284686
dbSNP Id:
rs72466575
ExAC:
X:31525466 C / A
gnomAD v2:
X-31525466-C-A
gnomAD v3:
X-31507349-C-A
gnomAD v4:
X-31507349-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31507349C>A , CM000685.2:g.31507349C>A | GRCh38 |
| NC_000023.10:g.31525466C>A , CM000685.1:g.31525466C>A | GRCh37 |
| NC_000023.9:g.31435387C>A | NCBI36 |
| NG_012232.1:g.1837261G>T , LRG_199:g.1837261G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.3168G>T | ENSP00000350765.3:p.Leu1056= | |
| ENST00000682238.1:c.942G>T | ENSP00000508124.1:p.Leu314= | |
| ENST00000683450.1:n.1787G>T | ||
| ENST00000683957.1:n.1814G>T | ||
| ENST00000684130.1:c.942G>T | ENSP00000508037.1:p.Leu314= | |
| ENST00000343523.7:c.177G>T | ENSP00000340057.4:p.Leu59= | |
| ENST00000357033.9:c.8322G>T MANE Select | ENSP00000354923.3:p.Leu2774= | |
| ENST00000619831.5:c.4290G>T | ENSP00000479270.2:p.Leu1430= | |
| ENST00000620040.5:c.942G>T | ENSP00000478150.2:p.Leu314= | |
| ENST00000680961.1:c.942G>T | ENSP00000506386.1:p.Leu314= | |
| ENST00000681646.1:n.1983G>T | ||
| ENST00000343523.6:c.135G>T | ENSP00000340057.3:p.Leu45= | |
| ENST00000357033.8:c.8322G>T | ENSP00000354923.3:p.Leu2774= | |
| ENST00000358062.6:c.1410G>T | ENSP00000350765.2:p.Leu470= | |
| ENST00000359836.5:c.942G>T | ENSP00000352894.1:p.Leu314= | |
| ENST00000378677.6:c.8310G>T | ENSP00000367948.2:p.Leu2770= | |
| ENST00000378707.7:c.942G>T | ENSP00000367979.3:p.Leu314= | |
| ENST00000445312.1:n.379G>T | ||
| ENST00000474231.5:c.942G>T | ENSP00000417123.1:p.Leu314= | |
| ENST00000541735.5:c.942G>T | ENSP00000444119.1:p.Leu314= | |
| ENST00000619831.4:c.8307G>T | ENSP00000479270.1:p.Leu2769= | |
| ENST00000620040.4:c.8319G>T | ENSP00000478150.1:p.Leu2773= | |
| NM_000109.3:c.8298G>T | NP_000100.2:p.Leu2766= | |
| NM_004006.2:c.8322G>T , LRG_199t1:c.8322G>T | NP_003997.1:p.Leu2774= | |
| NM_004009.3:c.8310G>T | NP_004000.1:p.Leu2770= | |
| NM_004010.3:c.7953G>T | NP_004001.1:p.Leu2651= | |
| NM_004011.3:c.4299G>T | NP_004002.2:p.Leu1433= | |
| NM_004012.3:c.4290G>T | NP_004003.1:p.Leu1430= | |
| NM_004013.2:c.942G>T | NP_004004.1:p.Leu314= | |
| NM_004014.2:c.135G>T | NP_004005.1:p.Leu45= | |
| NM_004020.3:c.942G>T | NP_004011.2:p.Leu314= | |
| NM_004021.2:c.942G>T | NP_004012.1:p.Leu314= | |
| NM_004022.2:c.942G>T | NP_004013.1:p.Leu314= | |
| NM_004023.2:c.942G>T | NP_004014.1:p.Leu314= | |
| XM_006724468.2:c.8322G>T | XP_006724531.1:p.Leu2774= | |
| XM_006724469.2:c.8298G>T | XP_006724532.1:p.Leu2766= | |
| XM_006724470.2:c.8322G>T | XP_006724533.1:p.Leu2774= | |
| XM_006724471.2:c.8322G>T | XP_006724534.1:p.Leu2774= | |
| XM_006724472.2:c.8193G>T | XP_006724535.1:p.Leu2731= | |
| XM_006724473.2:c.8184G>T | XP_006724536.1:p.Leu2728= | |
| XM_006724474.2:c.8322G>T | XP_006724537.1:p.Leu2774= | |
| XM_006724475.2:c.8322G>T | XP_006724538.1:p.Leu2774= | |
| XM_011545467.1:c.8199G>T | XP_011543769.1:p.Leu2733= | |
| XM_011545468.1:c.8322G>T | XP_011543770.1:p.Leu2774= | |
| XM_006724469.3:c.8298G>T | XP_006724532.1:p.Leu2766= | |
| XM_006724470.3:c.8322G>T | XP_006724533.1:p.Leu2774= | |
| XM_006724474.3:c.8322G>T | XP_006724537.1:p.Leu2774= | |
| XM_011545468.2:c.8322G>T | XP_011543770.1:p.Leu2774= | |
| XM_017029328.1:c.8322G>T | XP_016884817.1:p.Leu2774= | |
| XM_017029331.1:c.2496G>T | XP_016884820.1:p.Leu832= | |
| NM_000109.4:c.8298G>T | NP_000100.3:p.Leu2766= | |
| NM_004006.3:c.8322G>T MANE Select | NP_003997.2:p.Leu2774= | |
| NM_004011.4:c.4299G>T | NP_004002.3:p.Leu1433= | |
| NM_004012.4:c.4290G>T | NP_004003.2:p.Leu1430= | |
| NM_004021.3:c.942G>T | NP_004012.2:p.Leu314= | |
| NM_004023.3:c.942G>T | NP_004014.2:p.Leu314= | |
| NM_004013.3:c.942G>T | NP_004004.2:p.Leu314= | |
| NM_004014.3:c.135G>T | NP_004005.2:p.Leu45= | |
| NM_004020.4:c.942G>T | NP_004011.3:p.Leu314= | |
| NM_004022.3:c.942G>T | NP_004013.2:p.Leu314= |