Linked Data
ClinVar Variation Id:
2660104
ClinVar RCV Id:
RCV003441093
dbSNP Id:
rs1014339966
gnomAD v4:
X-18628656-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18628656G>C , CM000685.2:g.18628656G>C | GRCh38 |
| NC_000023.10:g.18646776G>C , CM000685.1:g.18646776G>C | GRCh37 |
| NC_000023.9:g.18556697G>C | NCBI36 |
| NG_008475.1:g.208052G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.2782G>C MANE Select | ENSP00000485244.1:p.Glu928Gln | |
| ENST00000674046.1:c.2905G>C | ENSP00000501174.1:p.Glu969Gln | |
| ENST00000379989.6:c.2713+69G>C | ENSP00000369325.3:n.2713+69G>C | |
| ENST00000379996.7:c.2713+69G>C | ENSP00000369332.3:n.2713+69G>C | |
| ENST00000623535.1:c.2782G>C | ENSP00000485244.1:p.Glu928Gln | |
| NM_001037343.1:c.2713+69G>C | NP_001032420.1:n.2713+69G>C | |
| NM_003159.2:c.2713+69G>C | NP_003150.1:n.2713+69G>C | |
| XM_011545569.1:c.2785+69G>C | XP_011543871.1:n.2785+69G>C | |
| XM_011545570.1:c.2704+69G>C | XP_011543872.1:n.2704+69G>C | |
| XR_950484.1:n.3088+69G>C | ||
| NM_001323289.1:c.2782G>C | NP_001310218.1:p.Glu928Gln | |
| NM_001323289.2:c.2782G>C MANE Select | NP_001310218.1:p.Glu928Gln | |
| NM_001037343.2:c.2713+69G>C | NP_001032420.1:n.2713+69G>C | |
| NM_003159.3:c.2713+69G>C | NP_003150.1:n.2713+69G>C |