Linked Data
ClinVar Variation Id:
471873
dbSNP Id:
rs532158398
gnomAD v2:
5-1264696-C-T
gnomAD v4:
5-1264581-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1264581C>T , CM000667.2:g.1264581C>T | GRCh38 |
| NC_000005.9:g.1264696C>T , CM000667.1:g.1264696C>T | GRCh37 |
| NC_000005.8:g.1317696C>T | NCBI36 |
| NG_009265.1:g.35467G>A , LRG_343:g.35467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2666G>A MANE Select | ENSP00000309572.5:p.Arg889Gln | |
| ENST00000656021.1:c.*2212G>A | ENSP00000499759.1:n.*2212G>A | |
| ENST00000310581.9:c.2666G>A | ENSP00000309572.5:p.Arg889Gln | |
| ENST00000334602.10:c.2654+1883G>A | ENSP00000334346.6:n.2654+1883G>A | |
| ENST00000460137.6:c.2436+1883G>A | ENSP00000425003.1:n.2436+1883G>A | |
| ENST00000484238.6:n.1285+1883G>A | ||
| ENST00000503656.1:n.73G>A | ||
| NM_001193376.1:c.2654+1883G>A | NP_001180305.1:n.2654+1883G>A | |
| NM_198253.2:c.2666G>A , LRG_343t1:c.2666G>A | NP_937983.2:p.Arg889Gln | |
| XM_011514104.1:c.1136G>A | XP_011512406.1:p.Arg379Gln | |
| XM_011514105.1:c.1022G>A | XP_011512407.1:p.Arg341Gln | |
| XM_011514106.1:c.1022G>A | XP_011512408.1:p.Arg341Gln | |
| NR_149162.1:n.2530+1883G>A | ||
| NR_149163.1:n.2494+1883G>A | ||
| NM_001193376.2:c.2654+1883G>A | NP_001180305.1:n.2654+1883G>A | |
| NM_198253.3:c.2666G>A MANE Select | NP_937983.2:p.Arg889Gln | |
| NR_149162.2:n.2551+1883G>A | ||
| NR_149163.2:n.2515+1883G>A | ||
| NM_001193376.3:c.2654+1883G>A | NP_001180305.1:n.2654+1883G>A | |
| NR_149162.3:n.2551+1883G>A | ||
| NR_149163.3:n.2515+1883G>A |