Linked Data
ClinVar Variation Id:
2143375
ClinVar RCV Id:
RCV003076691
dbSNP Id:
rs538823901
ExAC:
8:87655980 C / T
gnomAD v2:
8-87655980-C-T
gnomAD v3:
8-86643752-C-T
gnomAD v4:
8-86643752-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86643752C>T , CM000670.2:g.86643752C>T | GRCh38 |
| NC_000008.10:g.87655980C>T , CM000670.1:g.87655980C>T | GRCh37 |
| NC_000008.9:g.87725096C>T | NCBI36 |
| NG_016980.1:g.104924G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1177G>A MANE Select | ENSP00000316605.5:p.Glu393Lys | |
| ENST00000681546.1:n.997G>A | ||
| ENST00000681746.1:c.1177G>A | ENSP00000505959.1:p.Glu393Lys | |
| ENST00000320005.5:c.1177G>A | ENSP00000316605.5:p.Glu393Lys | |
| NM_019098.4:c.1177G>A | NP_061971.3:p.Glu393Lys | |
| XM_011517138.1:c.763G>A | XP_011515440.1:p.Glu255Lys | |
| XM_011517138.2:c.763G>A | XP_011515440.1:p.Glu255Lys | |
| NM_019098.5:c.1177G>A MANE Select | NP_061971.3:p.Glu393Lys |