Linked Data
ClinVar Variation Id:
451387
dbSNP Id:
rs758654750
ExAC:
X:31947826 G / T
gnomAD v2:
X-31947826-G-T
gnomAD v3:
X-31929709-G-T
gnomAD v4:
X-31929709-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31929709G>T , CM000685.2:g.31929709G>T | GRCh38 |
| NC_000023.10:g.31947826G>T , CM000685.1:g.31947826G>T | GRCh37 |
| NC_000023.9:g.31857747G>T | NCBI36 |
| NG_012232.1:g.1414901C>A , LRG_199:g.1414901C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.1645C>A | ENSP00000350765.3:p.Leu549Ile | |
| ENST00000682135.1:n.460C>A | ||
| ENST00000682238.1:c.-582C>A | ENSP00000508124.1:n.-582C>A | |
| ENST00000683117.1:n.460C>A | ||
| ENST00000683450.1:n.460C>A | ||
| ENST00000683851.1:n.460C>A | ||
| ENST00000683957.1:n.291C>A | ||
| ENST00000684130.1:c.-582C>A | ENSP00000508037.1:n.-582C>A | |
| ENST00000357033.9:c.6799C>A MANE Select | ENSP00000354923.3:p.Leu2267Ile | |
| ENST00000619831.5:c.2767C>A | ENSP00000479270.2:p.Leu923Ile | |
| ENST00000620040.5:c.-582C>A | ENSP00000478150.2:n.-582C>A | |
| ENST00000680961.1:c.-582C>A | ENSP00000506386.1:n.-582C>A | |
| ENST00000681646.1:n.460C>A | ||
| ENST00000357033.8:c.6799C>A | ENSP00000354923.3:p.Leu2267Ile | |
| ENST00000359836.5:c.-582C>A | ENSP00000352894.1:n.-582C>A | |
| ENST00000378677.6:c.6787C>A | ENSP00000367948.2:p.Leu2263Ile | |
| ENST00000378707.7:c.-582C>A | ENSP00000367979.3:n.-582C>A | |
| ENST00000474231.5:c.-582C>A | ENSP00000417123.1:n.-582C>A | |
| ENST00000541735.5:c.-582C>A | ENSP00000444119.1:n.-582C>A | |
| ENST00000619831.4:c.6784C>A | ENSP00000479270.1:p.Leu2262Ile | |
| ENST00000620040.4:c.6796C>A | ENSP00000478150.1:p.Leu2266Ile | |
| NM_000109.3:c.6775C>A | NP_000100.2:p.Leu2259Ile | |
| NM_004006.2:c.6799C>A , LRG_199t1:c.6799C>A | NP_003997.1:p.Leu2267Ile | |
| NM_004009.3:c.6787C>A | NP_004000.1:p.Leu2263Ile | |
| NM_004010.3:c.6430C>A | NP_004001.1:p.Leu2144Ile | |
| NM_004011.3:c.2776C>A | NP_004002.2:p.Leu926Ile | |
| NM_004012.3:c.2767C>A | NP_004003.1:p.Leu923Ile | |
| NM_004013.2:c.-582C>A | NP_004004.1:n.-582C>A | |
| NM_004020.3:c.-582C>A | NP_004011.2:n.-582C>A | |
| NM_004021.2:c.-582C>A | NP_004012.1:n.-582C>A | |
| NM_004022.2:c.-582C>A | NP_004013.1:n.-582C>A | |
| NM_004023.2:c.-582C>A | NP_004014.1:n.-582C>A | |
| XM_006724468.2:c.6799C>A | XP_006724531.1:p.Leu2267Ile | |
| XM_006724469.2:c.6775C>A | XP_006724532.1:p.Leu2259Ile | |
| XM_006724470.2:c.6799C>A | XP_006724533.1:p.Leu2267Ile | |
| XM_006724471.2:c.6799C>A | XP_006724534.1:p.Leu2267Ile | |
| XM_006724472.2:c.6670C>A | XP_006724535.1:p.Leu2224Ile | |
| XM_006724473.2:c.6661C>A | XP_006724536.1:p.Leu2221Ile | |
| XM_006724474.2:c.6799C>A | XP_006724537.1:p.Leu2267Ile | |
| XM_006724475.2:c.6799C>A | XP_006724538.1:p.Leu2267Ile | |
| XM_011545467.1:c.6676C>A | XP_011543769.1:p.Leu2226Ile | |
| XM_011545468.1:c.6799C>A | XP_011543770.1:p.Leu2267Ile | |
| XM_006724469.3:c.6775C>A | XP_006724532.1:p.Leu2259Ile | |
| XM_006724470.3:c.6799C>A | XP_006724533.1:p.Leu2267Ile | |
| XM_006724474.3:c.6799C>A | XP_006724537.1:p.Leu2267Ile | |
| XM_011545468.2:c.6799C>A | XP_011543770.1:p.Leu2267Ile | |
| XM_017029328.1:c.6799C>A | XP_016884817.1:p.Leu2267Ile | |
| XM_017029331.1:c.973C>A | XP_016884820.1:p.Leu325Ile | |
| NM_000109.4:c.6775C>A | NP_000100.3:p.Leu2259Ile | |
| NM_004006.3:c.6799C>A MANE Select | NP_003997.2:p.Leu2267Ile | |
| NM_004011.4:c.2776C>A | NP_004002.3:p.Leu926Ile | |
| NM_004012.4:c.2767C>A | NP_004003.2:p.Leu923Ile | |
| NM_004021.3:c.-582C>A | NP_004012.2:n.-582C>A | |
| NM_004023.3:c.-582C>A | NP_004014.2:n.-582C>A | |
| NM_004013.3:c.-582C>A | NP_004004.2:n.-582C>A | |
| NM_004020.4:c.-582C>A | NP_004011.3:n.-582C>A | |
| NM_004022.3:c.-582C>A | NP_004013.2:n.-582C>A |