Linked Data
ClinVar Variation Id:
2189429
ClinVar RCV Id:
RCV002607353
dbSNP Id:
rs374305455
ExAC:
7:138391377 C / T
gnomAD v2:
7-138391377-C-T
gnomAD v3:
7-138706632-C-T
gnomAD v4:
7-138706632-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138706632C>T , CM000669.2:g.138706632C>T | GRCh38 |
| NC_000007.13:g.138391377C>T , CM000669.1:g.138391377C>T | GRCh37 |
| NC_000007.12:g.138041917C>T | NCBI36 |
| NG_008145.1:g.96565G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310018.7:c.2515G>A MANE Select | ENSP00000308122.2:p.Glu839Lys | |
| ENST00000478480.2:c.*80G>A | ENSP00000495261.1:n.*80G>A | |
| ENST00000644341.1:c.1741G>A | ENSP00000495642.1:p.Glu581Lys | |
| ENST00000645515.1:c.2515G>A | ENSP00000496421.1:p.Glu839Lys | |
| ENST00000647427.1:c.1290G>A | ENSP00000496259.1:n.1290G>A | |
| ENST00000310018.6:c.2515G>A | ENSP00000308122.2:p.Glu839Lys | |
| ENST00000353492.4:c.2515G>A | ENSP00000253856.6:p.Glu839Lys | |
| ENST00000393054.5:c.2515G>A | ENSP00000376774.1:p.Glu839Lys | |
| NM_020632.2:c.2515G>A | NP_065683.2:p.Glu839Lys | |
| NM_130840.2:c.2515G>A | NP_570855.2:p.Glu839Lys | |
| NM_130841.2:c.2515G>A | NP_570856.2:p.Glu839Lys | |
| XM_005250393.1:c.2515G>A | XP_005250450.1:p.Glu839Lys | |
| XM_005250394.2:c.2515G>A | XP_005250451.1:p.Glu839Lys | |
| XM_005250394.3:c.2515G>A | XP_005250451.1:p.Glu839Lys | |
| NM_020632.3:c.2515G>A MANE Select | NP_065683.2:p.Glu839Lys | |
| NM_130840.3:c.2515G>A | NP_570855.2:p.Glu839Lys | |
| NM_130841.3:c.2515G>A | NP_570856.2:p.Glu839Lys |