Linked Data
dbSNP Id:
rs781388223
ExAC:
18:13884682 C / A
gnomAD v2:
18-13884682-C-A
gnomAD v4:
18-13884683-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884683C>A , CM000680.2:g.13884683C>A | GRCh38 |
| NC_000018.9:g.13884682C>A , CM000680.1:g.13884682C>A | GRCh37 |
| NC_000018.8:g.13874682C>A | NCBI36 |
| NG_011819.1:g.35854G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327606.4:c.836G>T MANE Select | ENSP00000333821.2:p.Arg279Leu | |
| ENST00000327606.3:c.836G>T | ENSP00000333821.2:p.Arg279Leu | |
| NM_000529.2:c.836G>T MANE Select | NP_000520.1:p.Arg279Leu | |
| NM_001291911.1:c.836G>T | NP_001278840.1:p.Arg279Leu | |
| XM_017025781.1:c.836G>T | XP_016881270.1:p.Arg279Leu |