Linked Data
ClinVar Variation Id:
784540
ClinVar RCV Id:
RCV000966247
dbSNP Id:
rs11643553
ExAC:
16:77323312 C / G
gnomAD v2:
16-77323312-C-G
gnomAD v3:
16-77289415-C-G
gnomAD v4:
16-77289415-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.77289415C>G , CM000678.2:g.77289415C>G | GRCh38 |
| NC_000016.9:g.77323312C>G , CM000678.1:g.77323312C>G | GRCh37 |
| NC_000016.8:g.75880813C>G | NCBI36 |
| NG_031879.1:g.150700G>C | |
| NG_031879.2:g.150700G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282849.10:c.3403-4G>C MANE Select | ENSP00000282849.5:n.3403-4G>C | |
| ENST00000282849.9:c.3403-4G>C | ENSP00000282849.5:n.3403-4G>C | |
| NM_199355.2:c.3403-4G>C | NP_955387.1:n.3403-4G>C | |
| XM_006721158.2:c.1315-4G>C | XP_006721221.1:n.1315-4G>C | |
| XM_011522923.1:c.2887-4G>C | XP_011521225.1:n.2887-4G>C | |
| XM_011522924.1:c.2674-4G>C | XP_011521226.1:n.2674-4G>C | |
| NM_001326358.1:c.2887-4G>C | NP_001313287.1:n.2887-4G>C | |
| NM_199355.3:c.3403-4G>C | NP_955387.1:n.3403-4G>C | |
| XM_011522924.2:c.2674-4G>C | XP_011521226.1:n.2674-4G>C | |
| XM_017022988.2:c.2167-4G>C | XP_016878477.1:n.2167-4G>C | |
| XM_017022989.1:c.2167-4G>C | XP_016878478.1:n.2167-4G>C | |
| NM_199355.4:c.3403-4G>C MANE Select | NP_955387.1:n.3403-4G>C | |
| NM_001326358.2:c.2887-4G>C | NP_001313287.1:n.2887-4G>C |