Linked Data
ClinVar Variation Id:
1166616
ClinVar RCV Id:
RCV001515018
dbSNP Id:
rs12935229
ExAC:
16:77328895 C / T
gnomAD v2:
16-77328895-C-T
gnomAD v3:
16-77294998-C-T
gnomAD v4:
16-77294998-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.77294998C>T , CM000678.2:g.77294998C>T | GRCh38 |
| NC_000016.9:g.77328895C>T , CM000678.1:g.77328895C>T | GRCh37 |
| NC_000016.8:g.75886396C>T | NCBI36 |
| NG_031879.1:g.145117G>A | |
| NG_031879.2:g.145117G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282849.10:c.2931G>A MANE Select | ENSP00000282849.5:p.Val977= | |
| ENST00000282849.9:c.2931G>A | ENSP00000282849.5:p.Val977= | |
| NM_199355.2:c.2931G>A | NP_955387.1:p.Val977= | |
| XM_006721158.2:c.843G>A | XP_006721221.1:p.Val281= | |
| XM_011522923.1:c.2415G>A | XP_011521225.1:p.Val805= | |
| XM_011522924.1:c.2415G>A | XP_011521226.1:p.Val805= | |
| NM_001326358.1:c.2415G>A | NP_001313287.1:p.Val805= | |
| NM_199355.3:c.2931G>A | NP_955387.1:p.Val977= | |
| XM_011522924.2:c.2415G>A | XP_011521226.1:p.Val805= | |
| XM_017022988.2:c.1695G>A | XP_016878477.1:p.Val565= | |
| XM_017022989.1:c.1695G>A | XP_016878478.1:p.Val565= | |
| NM_199355.4:c.2931G>A MANE Select | NP_955387.1:p.Val977= | |
| NM_001326358.2:c.2415G>A | NP_001313287.1:p.Val805= |