Linked Data
dbSNP Id:
rs751219044
ExAC:
13:47469738 C / T
gnomAD v2:
13-47469738-C-T
gnomAD v4:
13-46895603-C-T
COSMIC:
COSM141411
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46895603C>T , CM000675.2:g.46895603C>T | GRCh38 |
| NC_000013.10:g.47469738C>T , CM000675.1:g.47469738C>T | GRCh37 |
| NC_000013.9:g.46367739C>T | NCBI36 |
| NG_013011.1:g.6432G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.304G>A MANE Select | ENSP00000437737.1:p.Glu102Lys | |
| ENST00000543956.5:c.-78+1071G>A | ENSP00000441861.2:n.-78+1071G>A | |
| ENST00000378688.8:c.304G>A | ENSP00000367959.3:p.Glu102Lys | |
| ENST00000542664.3:c.304G>A | ENSP00000437737.1:p.Glu102Lys | |
| ENST00000543956.4:c.160+1071G>A | ENSP00000441861.1:n.160+1071G>A | |
| ENST00000612998.1:c.211G>A | ENSP00000482708.1:p.Glu71Lys | |
| NM_000621.4:c.304G>A | NP_000612.1:p.Glu102Lys | |
| NM_001165947.2:c.160+1071G>A | NP_001159419.1:n.160+1071G>A | |
| NM_000621.5:c.304G>A MANE Select | NP_000612.1:p.Glu102Lys | |
| NM_001165947.5:c.-78+1071G>A | NP_001159419.2:n.-78+1071G>A | |
| NM_001378924.1:c.304G>A | NP_001365853.1:p.Glu102Lys |