Linked Data
ClinVar Variation Id:
160301
dbSNP Id:
rs1008328
ExAC:
19:36595436 A / C
gnomAD v2:
19-36595436-A-C
gnomAD v3:
19-36104534-A-C
gnomAD v4:
19-36104534-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36104534A>C , CM000681.2:g.36104534A>C | GRCh38 |
| NC_000019.9:g.36595436A>C , CM000681.1:g.36595436A>C | GRCh37 |
| NC_000019.8:g.41287276A>C | NCBI36 |
| NG_028101.1:g.54654A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.4155A>C | ENSP00000270301.6:p.Leu1385Phe | |
| ENST00000401500.7:c.4170A>C MANE Select | ENSP00000384792.1:p.Leu1390Phe | |
| ENST00000587391.6:c.*4030A>C | ENSP00000465525.1:n.*4030A>C | |
| ENST00000679357.1:c.2250A>C | ||
| ENST00000679598.1:c.919-4A>C | ||
| ENST00000679682.1:c.4155A>C | ENSP00000506226.1:p.Leu1385Phe | |
| ENST00000679714.1:c.4164A>C | ENSP00000506627.1:p.Leu1388Phe | |
| ENST00000679757.1:c.3819A>C | ENSP00000505158.1:p.Leu1273Phe | |
| ENST00000679858.1:c.*3552A>C | ENSP00000505655.1:n.*3552A>C | |
| ENST00000680211.1:c.771A>C | ENSP00000506102.1:p.Leu257Phe | |
| ENST00000680280.1:n.1673A>C | ||
| ENST00000680349.1:n.2819A>C | ||
| ENST00000680403.1:c.4155A>C | ENSP00000505677.1:p.Leu1385Phe | |
| ENST00000680564.1:c.3921A>C | ENSP00000505582.1:p.Leu1307Phe | |
| ENST00000680590.1:c.*2550A>C | ENSP00000505350.1:n.*2550A>C | |
| ENST00000680597.1:c.903A>C | ||
| ENST00000680739.1:c.1185A>C | ||
| ENST00000680773.1:n.2671A>C | ||
| ENST00000680806.1:c.*3473A>C | ENSP00000506418.1:n.*3473A>C | |
| ENST00000680997.1:n.2102A>C | ||
| ENST00000681608.1:n.2015A>C | ||
| ENST00000681625.1:c.*1502A>C | ENSP00000505555.1:n.*1502A>C | |
| ENST00000681648.1:n.2221A>C | ||
| ENST00000270301.11:c.4155A>C | ENSP00000270301.6:p.Leu1385Phe | |
| ENST00000401500.6:c.4170A>C | ENSP00000384792.1:p.Leu1390Phe | |
| ENST00000587391.5:c.*4030A>C | ENSP00000465525.1:n.*4030A>C | |
| NM_001083961.1:c.4170A>C | NP_001077430.1:p.Leu1390Phe | |
| NM_173636.4:c.4155A>C | NP_775907.4:p.Leu1385Phe | |
| XM_005258809.2:c.4059A>C | XP_005258866.1:p.Leu1353Phe | |
| XM_011526837.1:c.4155A>C | XP_011525139.1:p.Leu1385Phe | |
| XM_011526838.1:c.3921A>C | XP_011525140.1:p.Leu1307Phe | |
| XM_011526839.1:c.3819A>C | XP_011525141.1:p.Leu1273Phe | |
| XM_011526840.1:c.3162A>C | XP_011525142.1:p.Leu1054Phe | |
| XM_011526841.1:c.2748A>C | XP_011525143.1:p.Leu916Phe | |
| XM_011526842.1:c.2601A>C | XP_011525144.1:p.Leu867Phe | |
| XM_011526843.1:c.1917A>C | XP_011525145.1:p.Leu639Phe | |
| XM_011526844.1:c.1917A>C | XP_011525146.1:p.Leu639Phe | |
| XM_011526840.2:c.3162A>C | XP_011525142.1:p.Leu1054Phe | |
| XM_011526841.2:c.2748A>C | XP_011525143.1:p.Leu916Phe | |
| XM_011526844.2:c.1917A>C | XP_011525146.1:p.Leu639Phe | |
| XM_017026665.1:c.4170A>C | XP_016882154.1:p.Leu1390Phe | |
| NM_001083961.2:c.4170A>C MANE Select | NP_001077430.1:p.Leu1390Phe | |
| NM_173636.5:c.4155A>C | NP_775907.4:p.Leu1385Phe |