Linked Data
ClinVar Variation Id:
842151
ClinVar RCV Id:
RCV001044523
dbSNP Id:
rs145597958
ExAC:
16:77325210 G / C
gnomAD v2:
16-77325210-G-C
gnomAD v3:
16-77291313-G-C
gnomAD v4:
16-77291313-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.77291313G>C , CM000678.2:g.77291313G>C | GRCh38 |
| NC_000016.9:g.77325210G>C , CM000678.1:g.77325210G>C | GRCh37 |
| NC_000016.8:g.75882711G>C | NCBI36 |
| NG_031879.1:g.148802C>G | |
| NG_031879.2:g.148802C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282849.10:c.3355C>G MANE Select | ENSP00000282849.5:p.Pro1119Ala | |
| ENST00000282849.9:c.3355C>G | ENSP00000282849.5:p.Pro1119Ala | |
| NM_199355.2:c.3355C>G | NP_955387.1:p.Pro1119Ala | |
| XM_006721158.2:c.1267C>G | XP_006721221.1:p.Pro423Ala | |
| XM_011522923.1:c.2839C>G | XP_011521225.1:p.Pro947Ala | |
| XM_011522924.1:c.2673+1763C>G | XP_011521226.1:n.2673+1763C>G | |
| NM_001326358.1:c.2839C>G | NP_001313287.1:p.Pro947Ala | |
| NM_199355.3:c.3355C>G | NP_955387.1:p.Pro1119Ala | |
| XM_011522924.2:c.2673+1763C>G | XP_011521226.1:n.2673+1763C>G | |
| XM_017022988.2:c.2119C>G | XP_016878477.1:p.Pro707Ala | |
| XM_017022989.1:c.2119C>G | XP_016878478.1:p.Pro707Ala | |
| NM_199355.4:c.3355C>G MANE Select | NP_955387.1:p.Pro1119Ala | |
| NM_001326358.2:c.2839C>G | NP_001313287.1:p.Pro947Ala |