Linked Data
dbSNP Id:
rs1467697389
gnomAD v2:
14-21861883-A-G
gnomAD v3:
14-21393724-A-G
gnomAD v4:
14-21393724-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21393724A>G , CM000676.2:g.21393724A>G | GRCh38 |
| NC_000014.8:g.21861883A>G , CM000676.1:g.21861883A>G | GRCh37 |
| NC_000014.7:g.20931723A>G | NCBI36 |
| NG_021249.1:g.48575T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.5234T>C | ENSP00000406288.3:p.Leu1745Ser | |
| ENST00000555935.2:c.3771T>C | ||
| ENST00000557364.6:c.6071T>C | ENSP00000451601.1:p.Leu2024Ser | |
| ENST00000643469.1:c.6071T>C | ENSP00000495070.1:p.Leu2024Ser | |
| ENST00000645206.1:n.5227T>C | ||
| ENST00000645929.1:c.5234T>C | ENSP00000494402.1:p.Leu1745Ser | |
| ENST00000646647.2:c.6071T>C MANE Select | ENSP00000495240.1:p.Leu2024Ser | |
| ENST00000399982.6:c.6071T>C | ENSP00000382863.2:p.Leu2024Ser | |
| ENST00000430710.7:c.5234T>C | ENSP00000406288.3:p.Leu1745Ser | |
| ENST00000555301.1:n.865T>C | ||
| ENST00000557364.5:c.6071T>C | ENSP00000451601.1:p.Leu2024Ser | |
| NM_001170629.1:c.6071T>C | NP_001164100.1:p.Leu2024Ser | |
| NM_020920.3:c.5234T>C | NP_065971.2:p.Leu1745Ser | |
| NM_001170629.2:c.6071T>C MANE Select | NP_001164100.1:p.Leu2024Ser | |
| NM_020920.4:c.5234T>C | NP_065971.2:p.Leu1745Ser |