Linked Data
dbSNP Id:
rs781575717
ExAC:
14:21860919 G / A
gnomAD v2:
14-21860919-G-A
gnomAD v4:
14-21392760-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21392760G>A , CM000676.2:g.21392760G>A | GRCh38 |
| NC_000014.8:g.21860919G>A , CM000676.1:g.21860919G>A | GRCh37 |
| NC_000014.7:g.20930759G>A | NCBI36 |
| NG_021249.1:g.49539C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.5681C>T | ENSP00000406288.3:p.Ser1894Leu | |
| ENST00000553870.2:c.70C>T | ||
| ENST00000555935.2:c.4218C>T | ||
| ENST00000557364.6:c.6518C>T | ENSP00000451601.1:p.Ser2173Leu | |
| ENST00000643469.1:c.6518C>T | ENSP00000495070.1:p.Ser2173Leu | |
| ENST00000645206.1:n.5674C>T | ||
| ENST00000645929.1:c.5681C>T | ENSP00000494402.1:p.Ser1894Leu | |
| ENST00000646647.2:c.6518C>T MANE Select | ENSP00000495240.1:p.Ser2173Leu | |
| ENST00000399982.6:c.6518C>T | ENSP00000382863.2:p.Ser2173Leu | |
| ENST00000430710.7:c.5681C>T | ENSP00000406288.3:p.Ser1894Leu | |
| ENST00000553870.1:c.29C>T | ENSP00000451071.1:p.Ser10Leu | |
| ENST00000557364.5:c.6518C>T | ENSP00000451601.1:p.Ser2173Leu | |
| NM_001170629.1:c.6518C>T | NP_001164100.1:p.Ser2173Leu | |
| NM_020920.3:c.5681C>T | NP_065971.2:p.Ser1894Leu | |
| NM_001170629.2:c.6518C>T MANE Select | NP_001164100.1:p.Ser2173Leu | |
| NM_020920.4:c.5681C>T | NP_065971.2:p.Ser1894Leu |