Linked Data
ClinVar Variation Id:
36193
dbSNP Id:
rs193922276
ExAC:
7:44184845 G / A
gnomAD v2:
7-44184845-G-A
gnomAD v3:
7-44145246-G-A
gnomAD v4:
7-44145246-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145246G>A , CM000669.2:g.44145246G>A | GRCh38 |
| NC_000007.13:g.44184845G>A , CM000669.1:g.44184845G>A | GRCh37 |
| NC_000007.12:g.44151370G>A | NCBI36 |
| NG_008847.1:g.49178C>T | |
| NG_008847.2:g.57925C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*1286C>T | ENSP00000379142.4:n.*1286C>T | |
| ENST00000616242.5:c.*408C>T | ENSP00000482149.2:n.*408C>T | |
| ENST00000683378.1:n.514C>T | ||
| ENST00000336642.9:c.322C>T | ENSP00000338009.5:p.Leu108= | |
| ENST00000345378.7:c.1291C>T | ENSP00000223366.2:p.Leu431= | |
| ENST00000403799.8:c.1288C>T MANE Select | ENSP00000384247.3:p.Leu430= | |
| ENST00000671824.1:c.1351C>T | ENSP00000500264.1:p.Leu451= | |
| ENST00000672743.1:n.300C>T | ||
| ENST00000673284.1:c.1288C>T | ENSP00000499852.1:p.Leu430= | |
| ENST00000336642.8:c.340C>T | ENSP00000338009.4:p.Leu114= | |
| ENST00000345378.6:c.1291C>T | ENSP00000223366.2:p.Leu431= | |
| ENST00000395796.7:c.1285C>T | ENSP00000379142.3:p.Leu429= | |
| ENST00000403799.7:c.1288C>T | ENSP00000384247.3:p.Leu430= | |
| ENST00000437084.1:c.1237C>T | ENSP00000402840.1:p.Leu413= | |
| ENST00000459642.1:n.668C>T | ||
| ENST00000616242.4:c.1285C>T | ENSP00000482149.1:p.Leu429= | |
| NM_000162.3:c.1288C>T | NP_000153.1:p.Leu430= | |
| NM_033507.1:c.1291C>T | NP_277042.1:p.Leu431= | |
| NM_033508.1:c.1285C>T | NP_277043.1:p.Leu429= | |
| NM_000162.4:c.1288C>T | NP_000153.1:p.Leu430= | |
| NM_001354800.1:c.1288C>T | NP_001341729.1:p.Leu430= | |
| NM_001354801.1:c.277C>T | NP_001341730.1:p.Leu93= | |
| NM_001354802.1:c.148C>T | NP_001341731.1:p.Leu50= | |
| NM_001354803.1:c.322C>T | NP_001341732.1:p.Leu108= | |
| NM_033507.2:c.1291C>T | NP_277042.1:p.Leu431= | |
| NM_033508.2:c.1285C>T | NP_277043.1:p.Leu429= | |
| XM_024446707.1:c.148C>T | XP_024302475.1:p.Leu50= | |
| NM_000162.5:c.1288C>T MANE Select | NP_000153.1:p.Leu430= | |
| NM_033507.3:c.1291C>T | NP_277042.1:p.Leu431= | |
| NM_033508.3:c.1285C>T | NP_277043.1:p.Leu429= | |
| NM_001354803.2:c.322C>T | NP_001341732.1:p.Leu108= |