Linked Data
ClinVar Variation Id:
498952
dbSNP Id:
rs773786369
ExAC:
X:31165581 C / T
gnomAD v2:
X-31165581-C-T
gnomAD v4:
X-31147464-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31147464C>T , CM000685.2:g.31147464C>T | GRCh38 |
| NC_000023.10:g.31165581C>T , CM000685.1:g.31165581C>T | GRCh37 |
| NC_000023.9:g.31075502C>T | NCBI36 |
| NG_012232.1:g.2197146G>A , LRG_199:g.2197146G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5415G>A | ENSP00000350765.3:p.Leu1805= | |
| ENST00000680162.2:c.1299G>A | ENSP00000506634.2:p.Leu433= | |
| ENST00000680768.2:c.1365G>A | ENSP00000506359.2:p.Leu455= | |
| ENST00000681989.1:n.1406G>A | ||
| ENST00000682207.1:n.728G>A | ||
| ENST00000682238.1:c.2898G>A | ENSP00000508124.1:p.Leu966= | |
| ENST00000682322.1:c.1299G>A | ENSP00000507690.1:p.Leu433= | |
| ENST00000682600.1:c.1365G>A | ENSP00000507640.1:p.Leu455= | |
| ENST00000682769.1:n.1200G>A | ||
| ENST00000683503.1:n.2423G>A | ||
| ENST00000683509.1:n.2086G>A | ||
| ENST00000683675.1:n.1707G>A | ||
| ENST00000683709.1:n.2087G>A | ||
| ENST00000683957.1:n.4061G>A | ||
| ENST00000683995.1:n.753G>A | ||
| ENST00000684072.1:n.837G>A | ||
| ENST00000684103.1:n.1016G>A | ||
| ENST00000684130.1:c.3189G>A | ENSP00000508037.1:p.Leu1063= | |
| ENST00000684342.1:n.1652G>A | ||
| ENST00000684350.1:n.2423G>A | ||
| ENST00000343523.7:c.2463G>A | ENSP00000340057.4:p.Leu821= | |
| ENST00000357033.9:c.10608G>A MANE Select | ENSP00000354923.3:p.Leu3536= | |
| ENST00000619831.5:c.6576G>A | ENSP00000479270.2:p.Leu2192= | |
| ENST00000620040.5:c.3189G>A | ENSP00000478150.2:p.Leu1063= | |
| ENST00000679437.1:c.270G>A | ENSP00000506629.1:p.Leu90= | |
| ENST00000679641.1:c.*280G>A | ENSP00000506135.1:n.*280G>A | |
| ENST00000679706.1:c.235G>A | ||
| ENST00000679850.1:n.5619G>A | ||
| ENST00000680162.1:c.1281G>A | ENSP00000506634.1:p.Leu427= | |
| ENST00000680355.1:c.1074G>A | ENSP00000506257.1:p.Leu358= | |
| ENST00000680557.1:c.604-13270G>A | ENSP00000505164.1:n.604-13270G>A | |
| ENST00000680701.1:n.383G>A | ||
| ENST00000680768.1:c.1308G>A | ENSP00000506359.1:p.Leu436= | |
| ENST00000680961.1:c.*571G>A | ENSP00000506386.1:n.*571G>A | |
| ENST00000681026.1:c.270G>A | ENSP00000506689.1:p.Leu90= | |
| ENST00000681153.1:c.1365G>A | ENSP00000505124.1:p.Leu455= | |
| ENST00000343523.6:c.2421G>A | ENSP00000340057.3:p.Leu807= | |
| ENST00000357033.8:c.10608G>A | ENSP00000354923.3:p.Leu3536= | |
| ENST00000358062.6:c.3657G>A | ENSP00000350765.2:p.Leu1219= | |
| ENST00000359836.5:c.3189G>A | ENSP00000352894.1:p.Leu1063= | |
| ENST00000361471.8:c.1365G>A | ENSP00000354464.4:p.Leu455= | |
| ENST00000378677.6:c.10596G>A | ENSP00000367948.2:p.Leu3532= | |
| ENST00000378680.6:c.1074G>A | ENSP00000367951.2:p.Leu358= | |
| ENST00000378702.8:c.1404G>A | ENSP00000367974.4:p.Leu468= | |
| ENST00000378707.7:c.3228G>A | ENSP00000367979.3:p.Leu1076= | |
| ENST00000378723.7:c.1404G>A | ENSP00000367997.3:p.Leu468= | |
| ENST00000474231.5:c.3228G>A | ENSP00000417123.1:p.Leu1076= | |
| ENST00000481143.2:n.114+21979G>A | ||
| ENST00000541735.5:c.2898G>A | ENSP00000444119.1:p.Leu966= | |
| ENST00000619831.4:c.10593G>A | ENSP00000479270.1:p.Leu3531= | |
| ENST00000620040.4:c.10605G>A | ENSP00000478150.1:p.Leu3535= | |
| NM_000109.3:c.10584G>A | NP_000100.2:p.Leu3528= | |
| NM_004006.2:c.10608G>A , LRG_199t1:c.10608G>A | NP_003997.1:p.Leu3536= | |
| NM_004009.3:c.10596G>A | NP_004000.1:p.Leu3532= | |
| NM_004010.3:c.10239G>A | NP_004001.1:p.Leu3413= | |
| NM_004011.3:c.6585G>A | NP_004002.2:p.Leu2195= | |
| NM_004012.3:c.6576G>A | NP_004003.1:p.Leu2192= | |
| NM_004013.2:c.3228G>A | NP_004004.1:p.Leu1076= | |
| NM_004014.2:c.2421G>A | NP_004005.1:p.Leu807= | |
| NM_004015.2:c.1404G>A | NP_004006.1:p.Leu468= | |
| NM_004016.2:c.1404G>A | NP_004007.1:p.Leu468= | |
| NM_004017.2:c.1365G>A | NP_004008.1:p.Leu455= | |
| NM_004018.2:c.1365G>A | NP_004009.1:p.Leu455= | |
| NM_004020.3:c.2898G>A | NP_004011.2:p.Leu966= | |
| NM_004021.2:c.3228G>A | NP_004012.1:p.Leu1076= | |
| NM_004022.2:c.3189G>A | NP_004013.1:p.Leu1063= | |
| NM_004023.2:c.2898G>A | NP_004014.1:p.Leu966= | |
| XM_006724468.2:c.10608G>A | XP_006724531.1:p.Leu3536= | |
| XM_006724469.2:c.10584G>A | XP_006724532.1:p.Leu3528= | |
| XM_006724470.2:c.10569G>A | XP_006724533.1:p.Leu3523= | |
| XM_006724471.2:c.10503G>A | XP_006724534.1:p.Leu3501= | |
| XM_006724472.2:c.10479G>A | XP_006724535.1:p.Leu3493= | |
| XM_006724473.2:c.10470G>A | XP_006724536.1:p.Leu3490= | |
| XM_006724474.2:c.10278G>A | XP_006724537.1:p.Leu3426= | |
| XM_006724475.2:c.10278G>A | XP_006724538.1:p.Leu3426= | |
| XM_011545467.1:c.10485G>A | XP_011543769.1:p.Leu3495= | |
| XM_006724469.3:c.10584G>A | XP_006724532.1:p.Leu3528= | |
| XM_006724470.3:c.10569G>A | XP_006724533.1:p.Leu3523= | |
| XM_006724474.3:c.10278G>A | XP_006724537.1:p.Leu3426= | |
| XM_017029328.1:c.10569G>A | XP_016884817.1:p.Leu3523= | |
| XM_017029331.1:c.4782G>A | XP_016884820.1:p.Leu1594= | |
| NM_000109.4:c.10584G>A | NP_000100.3:p.Leu3528= | |
| NM_004006.3:c.10608G>A MANE Select | NP_003997.2:p.Leu3536= | |
| NM_004011.4:c.6585G>A | NP_004002.3:p.Leu2195= | |
| NM_004012.4:c.6576G>A | NP_004003.2:p.Leu2192= | |
| NM_004015.3:c.1404G>A | NP_004006.1:p.Leu468= | |
| NM_004016.3:c.1404G>A | NP_004007.1:p.Leu468= | |
| NM_004017.3:c.1365G>A | NP_004008.1:p.Leu455= | |
| NM_004018.3:c.1365G>A | NP_004009.1:p.Leu455= | |
| NM_004021.3:c.3228G>A | NP_004012.2:p.Leu1076= | |
| NM_004023.3:c.2898G>A | NP_004014.2:p.Leu966= | |
| NM_004013.3:c.3228G>A | NP_004004.2:p.Leu1076= | |
| NM_004014.3:c.2421G>A | NP_004005.2:p.Leu807= | |
| NM_004020.4:c.2898G>A | NP_004011.3:p.Leu966= | |
| NM_004022.3:c.3189G>A | NP_004013.2:p.Leu1063= |