Linked Data
dbSNP Id:
rs746431481
ExAC:
13:48619819 G / A
gnomAD v2:
13-48619819-G-A
gnomAD v3:
13-48045683-G-A
gnomAD v4:
13-48045683-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045683G>A , CM000675.2:g.48045683G>A | GRCh38 |
| NC_000013.10:g.48619819G>A , CM000675.1:g.48619819G>A | GRCh37 |
| NC_000013.9:g.47517820G>A | NCBI36 |
| NG_047021.1:g.13117G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.379G>A MANE Select | ENSP00000258662.1:p.Glu127Lys | |
| ENST00000258662.2:c.379G>A | ENSP00000258662.1:p.Glu127Lys | |
| NM_018283.2:c.379G>A | NP_060753.1:p.Glu127Lys | |
| NM_018283.3:c.379G>A | NP_060753.1:p.Glu127Lys | |
| NR_136687.1:n.559G>A | ||
| NR_136688.1:n.559G>A | ||
| NM_018283.4:c.379G>A MANE Select | NP_060753.1:p.Glu127Lys | |
| NR_136687.2:n.400G>A | ||
| NR_136688.2:n.400G>A |