Linked Data
dbSNP Id:
rs1433215737
gnomAD v2:
10-96058201-C-T
gnomAD v3:
10-94298444-C-T
gnomAD v4:
10-94298444-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298444C>T , CM000672.2:g.94298444C>T | GRCh38 |
| NC_000010.10:g.96058201C>T , CM000672.1:g.96058201C>T | GRCh37 |
| NC_000010.9:g.96048191C>T | NCBI36 |
| NG_015799.1:g.309456C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.4309C>T | ENSP00000360426.1:p.Leu1437Phe | |
| ENST00000685253.1:c.*1776C>T | ENSP00000509405.1:n.*1776C>T | |
| ENST00000685889.1:n.1968C>T | ||
| ENST00000686807.1:n.652C>T | ||
| ENST00000686954.1:c.*517C>T | ENSP00000508416.1:n.*517C>T | |
| ENST00000688810.1:c.4261C>T | ENSP00000509140.1:p.Leu1421Phe | |
| ENST00000689233.1:n.9441C>T | ||
| ENST00000690340.1:n.2906C>T | ||
| ENST00000692286.1:c.5101C>T | ENSP00000509490.1:p.Leu1701Phe | |
| ENST00000692396.1:c.5185C>T | ENSP00000508605.1:p.Leu1729Phe | |
| ENST00000371380.8:c.5233C>T MANE Select | ENSP00000360431.2:p.Leu1745Phe | |
| ENST00000371385.8:c.4207C>T | ENSP00000360438.4:p.Leu1403Phe | |
| ENST00000674738.1:c.3788C>T | ||
| ENST00000674827.1:c.3349C>T | ENSP00000502523.1:p.Leu1117Phe | |
| ENST00000675218.1:c.4309C>T | ENSP00000501910.1:p.Leu1437Phe | |
| ENST00000675487.1:c.*1166C>T | ENSP00000502340.1:n.*1166C>T | |
| ENST00000675718.1:c.4502C>T | ||
| ENST00000676102.1:c.4078C>T | ENSP00000502811.1:p.Leu1360Phe | |
| ENST00000260766.7:c.5233C>T | ENSP00000260766.3:p.Leu1745Phe | |
| ENST00000371375.1:c.4309C>T | ENSP00000360426.1:p.Leu1437Phe | |
| ENST00000371380.7:c.5233C>T | ENSP00000360431.2:p.Leu1745Phe | |
| ENST00000371385.7:c.4309C>T | ENSP00000360438.3:p.Leu1437Phe | |
| NM_001165979.2:c.4309C>T | NP_001159451.1:p.Leu1437Phe | |
| NM_001288989.1:c.5185C>T | NP_001275918.1:p.Leu1729Phe | |
| NM_016341.3:c.5233C>T | NP_057425.3:p.Leu1745Phe | |
| XM_006717885.2:c.5275C>T | XP_006717948.1:p.Leu1759Phe | |
| XM_006717886.2:c.5275C>T | XP_006717949.1:p.Leu1759Phe | |
| XM_006717888.2:c.5272C>T | XP_006717951.1:p.Leu1758Phe | |
| XM_006717889.2:c.5227C>T | XP_006717952.1:p.Leu1743Phe | |
| XM_006717890.1:c.4351C>T | XP_006717953.1:p.Leu1451Phe | |
| XM_011539849.1:c.5275C>T | XP_011538151.1:p.Leu1759Phe | |
| XM_011539850.1:c.4120C>T | XP_011538152.1:p.Leu1374Phe | |
| XM_006717885.4:c.5275C>T | XP_006717948.1:p.Leu1759Phe | |
| XM_006717888.4:c.5272C>T | XP_006717951.1:p.Leu1758Phe | |
| XM_006717889.4:c.5227C>T | XP_006717952.1:p.Leu1743Phe | |
| XM_006717890.3:c.4351C>T | XP_006717953.1:p.Leu1451Phe | |
| XM_011539849.3:c.5275C>T | XP_011538151.1:p.Leu1759Phe | |
| XM_011539850.3:c.4120C>T | XP_011538152.1:p.Leu1374Phe | |
| XM_017016310.2:c.5275C>T | XP_016871799.1:p.Leu1759Phe | |
| XM_017016311.2:c.5275C>T | XP_016871800.1:p.Leu1759Phe | |
| XM_017016312.2:c.4261C>T | XP_016871801.1:p.Leu1421Phe | |
| NM_001288989.2:c.5185C>T | NP_001275918.1:p.Leu1729Phe | |
| NM_016341.4:c.5233C>T MANE Select | NP_057425.3:p.Leu1745Phe |