Linked Data
ClinVar Variation Id:
282954
ClinVar RCV Id:
RCV000335844
dbSNP Id:
rs757948524
ExAC:
13:110817261 G / A
gnomAD v2:
13-110817261-G-A
gnomAD v3:
13-110164914-G-A
gnomAD v4:
13-110164914-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110164914G>A , CM000675.2:g.110164914G>A | GRCh38 |
| NC_000013.10:g.110817261G>A , CM000675.1:g.110817261G>A | GRCh37 |
| NC_000013.9:g.109615262G>A | NCBI36 |
| NG_011544.2:g.147236C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375820.10:c.4098C>T MANE Select | ENSP00000364979.4:p.Gly1366= | |
| ENST00000649720.1:n.266C>T | ||
| ENST00000650424.1:c.254C>T | ||
| ENST00000375820.8:c.4098C>T | ENSP00000364979.4:p.Gly1366= | |
| NM_001845.5:c.4098C>T | NP_001836.3:p.Gly1366= | |
| XM_011521048.1:c.3906C>T | XP_011519350.1:p.Gly1302= | |
| XM_011521048.2:c.3906C>T | XP_011519350.1:p.Gly1302= | |
| NM_001845.6:c.4098C>T MANE Select | NP_001836.3:p.Gly1366= |