Linked Data
dbSNP Id:
rs748419295
ExAC:
X:32305704 G / T
gnomAD v2:
X-32305704-G-T
gnomAD v4:
X-32287587-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32287587G>T , CM000685.2:g.32287587G>T | GRCh38 |
| NC_000023.10:g.32305704G>T , CM000685.1:g.32305704G>T | GRCh37 |
| NC_000023.9:g.32215625G>T | NCBI36 |
| NG_012232.1:g.1057023C>A , LRG_199:g.1057023C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358062.7:c.1078C>A | ENSP00000350765.3:p.Leu360Ile | |
| ENST00000357033.9:c.6232C>A MANE Select | ENSP00000354923.3:p.Leu2078Ile | |
| ENST00000619831.5:c.2200C>A | ENSP00000479270.2:p.Leu734Ile | |
| ENST00000357033.8:c.6232C>A | ENSP00000354923.3:p.Leu2078Ile | |
| ENST00000378677.6:c.6220C>A | ENSP00000367948.2:p.Leu2074Ile | |
| ENST00000488902.5:n.336-70524C>A | ||
| ENST00000619831.4:c.6220C>A | ENSP00000479270.1:p.Leu2074Ile | |
| ENST00000620040.4:c.6232C>A | ENSP00000478150.1:p.Leu2078Ile | |
| NM_000109.3:c.6208C>A | NP_000100.2:p.Leu2070Ile | |
| NM_004006.2:c.6232C>A , LRG_199t1:c.6232C>A | NP_003997.1:p.Leu2078Ile | |
| NM_004009.3:c.6220C>A | NP_004000.1:p.Leu2074Ile | |
| NM_004010.3:c.5863C>A | NP_004001.1:p.Leu1955Ile | |
| NM_004011.3:c.2209C>A | NP_004002.2:p.Leu737Ile | |
| NM_004012.3:c.2200C>A | NP_004003.1:p.Leu734Ile | |
| XM_006724468.2:c.6232C>A | XP_006724531.1:p.Leu2078Ile | |
| XM_006724469.2:c.6208C>A | XP_006724532.1:p.Leu2070Ile | |
| XM_006724470.2:c.6232C>A | XP_006724533.1:p.Leu2078Ile | |
| XM_006724471.2:c.6232C>A | XP_006724534.1:p.Leu2078Ile | |
| XM_006724472.2:c.6103C>A | XP_006724535.1:p.Leu2035Ile | |
| XM_006724473.2:c.6094C>A | XP_006724536.1:p.Leu2032Ile | |
| XM_006724474.2:c.6232C>A | XP_006724537.1:p.Leu2078Ile | |
| XM_006724475.2:c.6232C>A | XP_006724538.1:p.Leu2078Ile | |
| XM_011545467.1:c.6109C>A | XP_011543769.1:p.Leu2037Ile | |
| XM_011545468.1:c.6232C>A | XP_011543770.1:p.Leu2078Ile | |
| XM_006724469.3:c.6208C>A | XP_006724532.1:p.Leu2070Ile | |
| XM_006724470.3:c.6232C>A | XP_006724533.1:p.Leu2078Ile | |
| XM_006724474.3:c.6232C>A | XP_006724537.1:p.Leu2078Ile | |
| XM_011545468.2:c.6232C>A | XP_011543770.1:p.Leu2078Ile | |
| XM_017029328.1:c.6232C>A | XP_016884817.1:p.Leu2078Ile | |
| XM_017029329.1:c.6232C>A | XP_016884818.1:p.Leu2078Ile | |
| XM_017029330.2:c.6232C>A | XP_016884819.1:p.Leu2078Ile | |
| XM_017029331.1:c.406C>A | XP_016884820.1:p.Leu136Ile | |
| NM_000109.4:c.6208C>A | NP_000100.3:p.Leu2070Ile | |
| NM_004006.3:c.6232C>A MANE Select | NP_003997.2:p.Leu2078Ile | |
| NM_004011.4:c.2209C>A | NP_004002.3:p.Leu737Ile | |
| NM_004012.4:c.2200C>A | NP_004003.2:p.Leu734Ile |