Linked Data
ClinVar Variation Id:
498249
dbSNP Id:
rs116763572
ExAC:
13:39422761 C / T
gnomAD v2:
13-39422761-C-T
gnomAD v3:
13-38848624-C-T
gnomAD v4:
13-38848624-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38848624C>T , CM000675.2:g.38848624C>T | GRCh38 |
| NC_000013.10:g.39422761C>T , CM000675.1:g.39422761C>T | GRCh37 |
| NC_000013.9:g.38320761C>T | NCBI36 |
| NG_008125.2:g.166589C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280481.9:c.6333C>T MANE Select | ENSP00000280481.7:p.Gly2111= | |
| ENST00000280481.8:c.6333C>T | ENSP00000280481.7:p.Gly2111= | |
| ENST00000482551.1:n.467C>T | ||
| NM_207361.5:c.6333C>T | NP_997244.4:p.Gly2111= | |
| XM_011535057.1:c.6333C>T | XP_011533359.1:p.Gly2111= | |
| NM_207361.6:c.6333C>T MANE Select | NP_997244.4:p.Gly2111= |