Linked Data
ClinVar Variation Id:
455928
dbSNP Id:
rs367747168
ExAC:
X:31893352 A / G
gnomAD v2:
X-31893352-A-G
gnomAD v3:
X-31875235-A-G
gnomAD v4:
X-31875235-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31875235A>G , CM000685.2:g.31875235A>G | GRCh38 |
| NC_000023.10:g.31893352A>G , CM000685.1:g.31893352A>G | GRCh37 |
| NC_000023.9:g.31803273A>G | NCBI36 |
| NG_012232.1:g.1469375T>C , LRG_199:g.1469375T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.1897T>C | ENSP00000350765.3:p.Leu633= | |
| ENST00000682238.1:c.-330T>C | ENSP00000508124.1:n.-330T>C | |
| ENST00000683117.1:n.712T>C | ||
| ENST00000683450.1:n.634T>C | ||
| ENST00000683851.1:n.712T>C | ||
| ENST00000683957.1:n.543T>C | ||
| ENST00000684130.1:c.-330T>C | ENSP00000508037.1:n.-330T>C | |
| ENST00000357033.9:c.7051T>C MANE Select | ENSP00000354923.3:p.Leu2351= | |
| ENST00000619831.5:c.3019T>C | ENSP00000479270.2:p.Leu1007= | |
| ENST00000620040.5:c.-330T>C | ENSP00000478150.2:n.-330T>C | |
| ENST00000680961.1:c.-330T>C | ENSP00000506386.1:n.-330T>C | |
| ENST00000681646.1:n.712T>C | ||
| ENST00000357033.8:c.7051T>C | ENSP00000354923.3:p.Leu2351= | |
| ENST00000358062.6:c.139T>C | ENSP00000350765.2:p.Leu47= | |
| ENST00000359836.5:c.-330T>C | ENSP00000352894.1:n.-330T>C | |
| ENST00000378677.6:c.7039T>C | ENSP00000367948.2:p.Leu2347= | |
| ENST00000378707.7:c.-330T>C | ENSP00000367979.3:n.-330T>C | |
| ENST00000474231.5:c.-330T>C | ENSP00000417123.1:n.-330T>C | |
| ENST00000541735.5:c.-330T>C | ENSP00000444119.1:n.-330T>C | |
| ENST00000619831.4:c.7036T>C | ENSP00000479270.1:p.Leu2346= | |
| ENST00000620040.4:c.7048T>C | ENSP00000478150.1:p.Leu2350= | |
| NM_000109.3:c.7027T>C | NP_000100.2:p.Leu2343= | |
| NM_004006.2:c.7051T>C , LRG_199t1:c.7051T>C | NP_003997.1:p.Leu2351= | |
| NM_004009.3:c.7039T>C | NP_004000.1:p.Leu2347= | |
| NM_004010.3:c.6682T>C | NP_004001.1:p.Leu2228= | |
| NM_004011.3:c.3028T>C | NP_004002.2:p.Leu1010= | |
| NM_004012.3:c.3019T>C | NP_004003.1:p.Leu1007= | |
| NM_004013.2:c.-330T>C | NP_004004.1:n.-330T>C | |
| NM_004020.3:c.-330T>C | NP_004011.2:n.-330T>C | |
| NM_004021.2:c.-330T>C | NP_004012.1:n.-330T>C | |
| NM_004022.2:c.-330T>C | NP_004013.1:n.-330T>C | |
| NM_004023.2:c.-330T>C | NP_004014.1:n.-330T>C | |
| XM_006724468.2:c.7051T>C | XP_006724531.1:p.Leu2351= | |
| XM_006724469.2:c.7027T>C | XP_006724532.1:p.Leu2343= | |
| XM_006724470.2:c.7051T>C | XP_006724533.1:p.Leu2351= | |
| XM_006724471.2:c.7051T>C | XP_006724534.1:p.Leu2351= | |
| XM_006724472.2:c.6922T>C | XP_006724535.1:p.Leu2308= | |
| XM_006724473.2:c.6913T>C | XP_006724536.1:p.Leu2305= | |
| XM_006724474.2:c.7051T>C | XP_006724537.1:p.Leu2351= | |
| XM_006724475.2:c.7051T>C | XP_006724538.1:p.Leu2351= | |
| XM_011545467.1:c.6928T>C | XP_011543769.1:p.Leu2310= | |
| XM_011545468.1:c.7051T>C | XP_011543770.1:p.Leu2351= | |
| XM_006724469.3:c.7027T>C | XP_006724532.1:p.Leu2343= | |
| XM_006724470.3:c.7051T>C | XP_006724533.1:p.Leu2351= | |
| XM_006724474.3:c.7051T>C | XP_006724537.1:p.Leu2351= | |
| XM_011545468.2:c.7051T>C | XP_011543770.1:p.Leu2351= | |
| XM_017029328.1:c.7051T>C | XP_016884817.1:p.Leu2351= | |
| XM_017029331.1:c.1225T>C | XP_016884820.1:p.Leu409= | |
| NM_000109.4:c.7027T>C | NP_000100.3:p.Leu2343= | |
| NM_004006.3:c.7051T>C MANE Select | NP_003997.2:p.Leu2351= | |
| NM_004011.4:c.3028T>C | NP_004002.3:p.Leu1010= | |
| NM_004012.4:c.3019T>C | NP_004003.2:p.Leu1007= | |
| NM_004021.3:c.-330T>C | NP_004012.2:n.-330T>C | |
| NM_004023.3:c.-330T>C | NP_004014.2:n.-330T>C | |
| NM_004013.3:c.-330T>C | NP_004004.2:n.-330T>C | |
| NM_004020.4:c.-330T>C | NP_004011.3:n.-330T>C | |
| NM_004022.3:c.-330T>C | NP_004013.2:n.-330T>C |