Linked Data
dbSNP Id:
rs756603433
ExAC:
13:48619821 A / C
gnomAD v2:
13-48619821-A-C
gnomAD v4:
13-48045685-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045685A>C , CM000675.2:g.48045685A>C | GRCh38 |
| NC_000013.10:g.48619821A>C , CM000675.1:g.48619821A>C | GRCh37 |
| NC_000013.9:g.47517822A>C | NCBI36 |
| NG_047021.1:g.13119A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.381A>C MANE Select | ENSP00000258662.1:p.Glu127Asp | |
| ENST00000258662.2:c.381A>C | ENSP00000258662.1:p.Glu127Asp | |
| NM_018283.2:c.381A>C | NP_060753.1:p.Glu127Asp | |
| NM_018283.3:c.381A>C | NP_060753.1:p.Glu127Asp | |
| NR_136687.1:n.561A>C | ||
| NR_136688.1:n.561A>C | ||
| NM_018283.4:c.381A>C MANE Select | NP_060753.1:p.Glu127Asp | |
| NR_136687.2:n.402A>C | ||
| NR_136688.2:n.402A>C |