Linked Data
dbSNP Id:
rs760744843
ExAC:
13:48619906 C / T
gnomAD v2:
13-48619906-C-T
gnomAD v3:
13-48045770-C-T
gnomAD v4:
13-48045770-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045770C>T , CM000675.2:g.48045770C>T | GRCh38 |
| NC_000013.10:g.48619906C>T , CM000675.1:g.48619906C>T | GRCh37 |
| NC_000013.9:g.47517907C>T | NCBI36 |
| NG_047021.1:g.13204C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.466C>T MANE Select | ENSP00000258662.1:p.Leu156= | |
| ENST00000258662.2:c.466C>T | ENSP00000258662.1:p.Leu156= | |
| NM_018283.2:c.466C>T | NP_060753.1:p.Leu156= | |
| NM_018283.3:c.466C>T | NP_060753.1:p.Leu156= | |
| NR_136687.1:n.646C>T | ||
| NR_136688.1:n.646C>T | ||
| NM_018283.4:c.466C>T MANE Select | NP_060753.1:p.Leu156= | |
| NR_136687.2:n.487C>T | ||
| NR_136688.2:n.487C>T |