Linked Data
ClinVar Variation Id:
1025992
ClinVar RCV Id:
RCV001326386
dbSNP Id:
rs3743749
ExAC:
16:77323235 C / T
gnomAD v2:
16-77323235-C-T
gnomAD v3:
16-77289338-C-T
gnomAD v4:
16-77289338-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.77289338C>T , CM000678.2:g.77289338C>T | GRCh38 |
| NC_000016.9:g.77323235C>T , CM000678.1:g.77323235C>T | GRCh37 |
| NC_000016.8:g.75880736C>T | NCBI36 |
| NG_031879.1:g.150777G>A | |
| NG_031879.2:g.150777G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282849.10:c.3476G>A MANE Select | ENSP00000282849.5:p.Ser1159Asn | |
| ENST00000282849.9:c.3476G>A | ENSP00000282849.5:p.Ser1159Asn | |
| ENST00000562332.1:c.22G>A | ||
| NM_199355.2:c.3476G>A | NP_955387.1:p.Ser1159Asn | |
| XM_006721158.2:c.1388G>A | XP_006721221.1:p.Ser463Asn | |
| XM_011522923.1:c.2960G>A | XP_011521225.1:p.Ser987Asn | |
| XM_011522924.1:c.2747G>A | XP_011521226.1:p.Ser916Asn | |
| NM_001326358.1:c.2960G>A | NP_001313287.1:p.Ser987Asn | |
| NM_199355.3:c.3476G>A | NP_955387.1:p.Ser1159Asn | |
| XM_011522924.2:c.2747G>A | XP_011521226.1:p.Ser916Asn | |
| XM_017022988.2:c.2240G>A | XP_016878477.1:p.Ser747Asn | |
| XM_017022989.1:c.2240G>A | XP_016878478.1:p.Ser747Asn | |
| NM_199355.4:c.3476G>A MANE Select | NP_955387.1:p.Ser1159Asn | |
| NM_001326358.2:c.2960G>A | NP_001313287.1:p.Ser987Asn |