Linked Data
ClinVar Variation Id:
423086
dbSNP Id:
rs769383291
ExAC:
X:32382704 G / A
gnomAD v2:
X-32382704-G-A
gnomAD v3:
X-32364587-G-A
gnomAD v4:
X-32364587-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32364587G>A , CM000685.2:g.32364587G>A | GRCh38 |
| NC_000023.10:g.32382704G>A , CM000685.1:g.32382704G>A | GRCh37 |
| NC_000023.9:g.32292625G>A | NCBI36 |
| NG_012232.1:g.980023C>T , LRG_199:g.980023C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357033.9:c.5149C>T MANE Select | ENSP00000354923.3:p.Leu1717Phe | |
| ENST00000619831.5:c.1117C>T | ENSP00000479270.2:p.Leu373Phe | |
| ENST00000357033.8:c.5149C>T | ENSP00000354923.3:p.Leu1717Phe | |
| ENST00000378677.6:c.5137C>T | ENSP00000367948.2:p.Leu1713Phe | |
| ENST00000488902.5:n.336-147524C>T | ||
| ENST00000619831.4:c.5137C>T | ENSP00000479270.1:p.Leu1713Phe | |
| ENST00000620040.4:c.5149C>T | ENSP00000478150.1:p.Leu1717Phe | |
| NM_000109.3:c.5125C>T | NP_000100.2:p.Leu1709Phe | |
| NM_004006.2:c.5149C>T , LRG_199t1:c.5149C>T | NP_003997.1:p.Leu1717Phe | |
| NM_004009.3:c.5137C>T | NP_004000.1:p.Leu1713Phe | |
| NM_004010.3:c.4780C>T | NP_004001.1:p.Leu1594Phe | |
| NM_004011.3:c.1126C>T | NP_004002.2:p.Leu376Phe | |
| NM_004012.3:c.1117C>T | NP_004003.1:p.Leu373Phe | |
| XM_006724468.2:c.5149C>T | XP_006724531.1:p.Leu1717Phe | |
| XM_006724469.2:c.5125C>T | XP_006724532.1:p.Leu1709Phe | |
| XM_006724470.2:c.5149C>T | XP_006724533.1:p.Leu1717Phe | |
| XM_006724471.2:c.5149C>T | XP_006724534.1:p.Leu1717Phe | |
| XM_006724472.2:c.5020C>T | XP_006724535.1:p.Leu1674Phe | |
| XM_006724473.2:c.5149C>T | XP_006724536.1:p.Leu1717Phe | |
| XM_006724474.2:c.5149C>T | XP_006724537.1:p.Leu1717Phe | |
| XM_006724475.2:c.5149C>T | XP_006724538.1:p.Leu1717Phe | |
| XM_011545467.1:c.5149C>T | XP_011543769.1:p.Leu1717Phe | |
| XM_011545468.1:c.5149C>T | XP_011543770.1:p.Leu1717Phe | |
| XM_011545469.1:c.5149C>T | XP_011543771.1:p.Leu1717Phe | |
| XM_006724469.3:c.5125C>T | XP_006724532.1:p.Leu1709Phe | |
| XM_006724470.3:c.5149C>T | XP_006724533.1:p.Leu1717Phe | |
| XM_006724474.3:c.5149C>T | XP_006724537.1:p.Leu1717Phe | |
| XM_011545468.2:c.5149C>T | XP_011543770.1:p.Leu1717Phe | |
| XM_017029328.1:c.5149C>T | XP_016884817.1:p.Leu1717Phe | |
| XM_017029329.1:c.5149C>T | XP_016884818.1:p.Leu1717Phe | |
| XM_017029330.2:c.5149C>T | XP_016884819.1:p.Leu1717Phe | |
| NM_000109.4:c.5125C>T | NP_000100.3:p.Leu1709Phe | |
| NM_004006.3:c.5149C>T MANE Select | NP_003997.2:p.Leu1717Phe | |
| NM_004011.4:c.1126C>T | NP_004002.3:p.Leu376Phe | |
| NM_004012.4:c.1117C>T | NP_004003.2:p.Leu373Phe |