Linked Data
dbSNP Id:
rs1383342718
gnomAD v2:
19-18499405-G-T
gnomAD v3:
19-18388595-G-T
gnomAD v4:
19-18388595-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18388595G>T , CM000681.2:g.18388595G>T | GRCh38 |
| NC_000019.9:g.18499405G>T , CM000681.1:g.18499405G>T | GRCh37 |
| NC_000019.8:g.18360405G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595973.3:c.587G>T | ENSP00000470531.3:p.Arg196Leu | |
| ENST00000597765.2:c.587G>T | ENSP00000469819.2:p.Arg196Leu | |
| ENST00000252809.3:c.587G>T MANE Select | ENSP00000252809.3:p.Arg196Leu | |
| NM_004864.2:c.587G>T | NP_004855.2:p.Arg196Leu | |
| NM_004864.3:c.587G>T | NP_004855.2:p.Arg196Leu | |
| XM_024451789.1:c.587G>T | XP_024307557.1:p.Arg196Leu | |
| NM_004864.4:c.587G>T MANE Select | NP_004855.2:p.Arg196Leu |