Linked Data
ClinVar Variation Id:
281978
dbSNP Id:
rs150046979
ExAC:
6:42937685 C / T
gnomAD v2:
6-42937685-C-T
gnomAD v3:
6-42969947-C-T
gnomAD v4:
6-42969947-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42969947C>T , CM000668.2:g.42969947C>T | GRCh38 |
| NC_000006.11:g.42937685C>T , CM000668.1:g.42937685C>T | GRCh37 |
| NC_000006.10:g.43045663C>T | NCBI36 |
| NG_008370.1:g.14297G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1171G>A MANE Select | ENSP00000303511.8:p.Glu391Lys | |
| ENST00000244546.4:c.1171G>A | ENSP00000244546.4:p.Glu391Lys | |
| ENST00000304611.12:c.1171G>A | ENSP00000303511.8:p.Glu391Lys | |
| NM_000287.3:c.1171G>A | NP_000278.3:p.Glu391Lys | |
| NM_001316313.1:c.907G>A | NP_001303242.1:p.Glu303Lys | |
| NR_133009.1:n.1264G>A | ||
| XM_011514661.1:c.1087G>A | XP_011512963.1:p.Glu363Lys | |
| XR_926246.1:n.1264G>A | ||
| XM_011514661.2:c.1087G>A | XP_011512963.1:p.Glu363Lys | |
| XR_001743466.2:n.2245G>A | ||
| NM_000287.4:c.1171G>A MANE Select | NP_000278.3:p.Glu391Lys | |
| NM_001316313.2:c.907G>A | NP_001303242.1:p.Glu303Lys | |
| NR_133009.2:n.1202G>A |