Linked Data
ClinVar Variation Id:
1486096
ClinVar RCV Id:
RCV002001226
dbSNP Id:
rs759636582
ExAC:
19:7117279 C / T
gnomAD v2:
19-7117279-C-T
gnomAD v4:
19-7117268-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7117268C>T , CM000681.2:g.7117268C>T | GRCh38 |
| NC_000019.9:g.7117279C>T , CM000681.1:g.7117279C>T | GRCh37 |
| NC_000019.8:g.7068279C>T | NCBI36 |
| NG_008852.2:g.181733G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3937G>A MANE Select | ENSP00000303830.4:p.Glu1313Lys | |
| ENST00000302850.9:c.3937G>A | ENSP00000303830.4:p.Glu1313Lys | |
| ENST00000341500.9:c.3901G>A | ENSP00000342838.4:p.Glu1301Lys | |
| NM_000208.2:c.3937G>A | NP_000199.2:p.Glu1313Lys | |
| NM_000208.3:c.3937G>A | NP_000199.2:p.Glu1313Lys | |
| NM_001079817.1:c.3901G>A | NP_001073285.1:p.Glu1301Lys | |
| NM_001079817.2:c.3901G>A | NP_001073285.1:p.Glu1301Lys | |
| XM_011527988.1:c.4012G>A | XP_011526290.1:p.Glu1338Lys | |
| XM_011527989.1:c.3976G>A | XP_011526291.1:p.Glu1326Lys | |
| XM_011527988.2:c.3934G>A | XP_011526290.2:p.Glu1312Lys | |
| XM_011527989.3:c.3898G>A | XP_011526291.2:p.Glu1300Lys | |
| NM_000208.4:c.3937G>A MANE Select | NP_000199.2:p.Glu1313Lys | |
| NM_001079817.3:c.3901G>A | NP_001073285.1:p.Glu1301Lys |