Linked Data
ClinVar Variation Id:
770636
ClinVar RCV Id:
RCV000949816
dbSNP Id:
rs140240513
ExAC:
16:77369732 C / T
gnomAD v2:
16-77369732-C-T
gnomAD v3:
16-77335835-C-T
gnomAD v4:
16-77335835-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.77335835C>T , CM000678.2:g.77335835C>T | GRCh38 |
| NC_000016.9:g.77369732C>T , CM000678.1:g.77369732C>T | GRCh37 |
| NC_000016.8:g.75927233C>T | NCBI36 |
| NG_031879.1:g.104280G>A | |
| NG_031879.2:g.104280G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282849.10:c.1780G>A MANE Select | ENSP00000282849.5:p.Ala594Thr | |
| ENST00000282849.9:c.1780G>A | ENSP00000282849.5:p.Ala594Thr | |
| NM_199355.2:c.1780G>A | NP_955387.1:p.Ala594Thr | |
| XM_006721158.2:c.-136G>A | XP_006721221.1:n.-136G>A | |
| XM_011522923.1:c.1264G>A | XP_011521225.1:p.Ala422Thr | |
| XM_011522924.1:c.1264G>A | XP_011521226.1:p.Ala422Thr | |
| NM_001326358.1:c.1264G>A | NP_001313287.1:p.Ala422Thr | |
| NM_199355.3:c.1780G>A | NP_955387.1:p.Ala594Thr | |
| XM_011522924.2:c.1264G>A | XP_011521226.1:p.Ala422Thr | |
| XM_017022988.2:c.544G>A | XP_016878477.1:p.Ala182Thr | |
| XM_017022989.1:c.544G>A | XP_016878478.1:p.Ala182Thr | |
| NM_199355.4:c.1780G>A MANE Select | NP_955387.1:p.Ala594Thr | |
| NM_001326358.2:c.1264G>A | NP_001313287.1:p.Ala422Thr |