Linked Data
ClinVar Variation Id:
414142
dbSNP Id:
rs143192349
ExAC:
19:11541831 C / T
gnomAD v2:
19-11541831-C-T
gnomAD v3:
19-11431011-C-T
gnomAD v4:
19-11431011-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11431011C>T , CM000681.2:g.11431011C>T | GRCh38 |
| NC_000019.9:g.11541831C>T , CM000681.1:g.11541831C>T | GRCh37 |
| NC_000019.8:g.11402831C>T | NCBI36 |
| NG_009300.1:g.563C>T | |
| NG_041777.1:g.9772G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356392.9:c.254G>A MANE Select | ENSP00000348757.3:p.Arg85Gln | |
| ENST00000356392.8:c.254G>A | ENSP00000348757.3:p.Arg85Gln | |
| ENST00000586836.5:c.-320G>A | ENSP00000467429.1:n.-320G>A | |
| ENST00000591179.5:c.254G>A | ENSP00000466800.1:p.Arg85Gln | |
| ENST00000591345.5:c.*173G>A | ENSP00000467313.1:n.*173G>A | |
| ENST00000593281.1:n.137G>A | ||
| NM_001302453.1:c.92G>A | NP_001289382.1:p.Arg31Gln | |
| NM_001302454.1:c.254G>A | NP_001289383.1:p.Arg85Gln | |
| NM_145045.4:c.254G>A | NP_659482.3:p.Arg85Gln | |
| XM_017026241.1:c.254G>A | XP_016881730.1:p.Arg85Gln | |
| NM_145045.5:c.254G>A MANE Select | NP_659482.3:p.Arg85Gln | |
| NM_001302454.2:c.254G>A | NP_001289383.1:p.Arg85Gln |