Linked Data
dbSNP Id:
rs139972538
ExAC:
17:6599193 G / T
gnomAD v2:
17-6599193-G-T
gnomAD v3:
17-6695874-G-T
gnomAD v4:
17-6695874-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6695874G>T , CM000679.2:g.6695874G>T | GRCh38 |
| NC_000017.10:g.6599193G>T , CM000679.1:g.6599193G>T | GRCh37 |
| NC_000017.9:g.6539917G>T | NCBI36 |
| NG_034220.1:g.22548C>A , LRG_1020:g.22548C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.907C>A MANE Select | ENSP00000406220.2:p.Gln303Lys | |
| ENST00000293800.10:c.856C>A | ENSP00000293800.6:p.Gln286Lys | |
| ENST00000381074.8:c.778C>A | ENSP00000370464.4:p.Gln260Lys | |
| ENST00000433363.6:c.907C>A | ENSP00000406220.2:p.Gln303Lys | |
| ENST00000572094.1:c.*657C>A | ENSP00000461495.1:n.*657C>A | |
| ENST00000572727.1:n.16C>A | ||
| ENST00000573648.5:c.907C>A | ENSP00000459372.1:p.Gln303Lys | |
| ENST00000574824.5:n.2040C>A | ||
| NM_001143838.2:c.907C>A | NP_001137310.1:p.Gln303Lys | |
| NM_001284509.1:c.856C>A | NP_001271438.1:p.Gln286Lys | |
| NM_001284510.1:c.778C>A | NP_001271439.1:p.Gln260Lys | |
| NM_177550.4:c.907C>A , LRG_1020t1:c.907C>A | NP_808218.1:p.Gln303Lys | |
| XM_006721504.2:c.796C>A | XP_006721567.1:p.Gln266Lys | |
| XM_011523795.1:c.907C>A | XP_011522097.1:p.Gln303Lys | |
| XM_011523795.3:c.907C>A | XP_011522097.1:p.Gln303Lys | |
| NM_001143838.3:c.907C>A | NP_001137310.1:p.Gln303Lys | |
| NM_001284509.2:c.856C>A | NP_001271438.1:p.Gln286Lys | |
| NM_001284510.2:c.778C>A | NP_001271439.1:p.Gln260Lys | |
| NM_177550.5:c.907C>A MANE Select | NP_808218.1:p.Gln303Lys |