Linked Data
ClinVar Variation Id:
539199
dbSNP Id:
rs768168259
ExAC:
5:1278814 C / T
gnomAD v2:
5-1278814-C-T
gnomAD v3:
5-1278699-C-T
gnomAD v4:
5-1278699-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1278699C>T , CM000667.2:g.1278699C>T | GRCh38 |
| NC_000005.9:g.1278814C>T , CM000667.1:g.1278814C>T | GRCh37 |
| NC_000005.8:g.1331814C>T | NCBI36 |
| NG_009265.1:g.21349G>A , LRG_343:g.21349G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2228G>A MANE Select | ENSP00000309572.5:p.Arg743Gln | |
| ENST00000656021.1:c.*1774G>A | ENSP00000499759.1:n.*1774G>A | |
| ENST00000310581.9:c.2228G>A | ENSP00000309572.5:p.Arg743Gln | |
| ENST00000334602.10:c.2228G>A | ENSP00000334346.6:p.Arg743Gln | |
| ENST00000460137.6:c.2192G>A | ENSP00000425003.1:p.Arg731Gln | |
| ENST00000484238.6:n.1041G>A | ||
| ENST00000508104.2:c.2228G>A | ENSP00000426042.2:p.Arg743Gln | |
| NM_001193376.1:c.2228G>A | NP_001180305.1:p.Arg743Gln | |
| NM_198253.2:c.2228G>A , LRG_343t1:c.2228G>A | NP_937983.2:p.Arg743Gln | |
| XM_011514104.1:c.698G>A | XP_011512406.1:p.Arg233Gln | |
| XM_011514105.1:c.584G>A | XP_011512407.1:p.Arg195Gln | |
| XM_011514106.1:c.584G>A | XP_011512408.1:p.Arg195Gln | |
| NR_149162.1:n.2286G>A | ||
| NR_149163.1:n.2250G>A | ||
| NM_001193376.2:c.2228G>A | NP_001180305.1:p.Arg743Gln | |
| NM_198253.3:c.2228G>A MANE Select | NP_937983.2:p.Arg743Gln | |
| NR_149162.2:n.2307G>A | ||
| NR_149163.2:n.2271G>A | ||
| NM_001193376.3:c.2228G>A | NP_001180305.1:p.Arg743Gln | |
| NR_149162.3:n.2307G>A | ||
| NR_149163.3:n.2271G>A |