Linked Data
ClinVar Variation Id:
36948
dbSNP Id:
rs387907249
gnomAD v4:
5-1278781-C-T
COSMIC:
COSM241870
PubMed:
PMID:21436073
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1278781C>T , CM000667.2:g.1278781C>T | GRCh38 |
| NC_000005.9:g.1278896C>T , CM000667.1:g.1278896C>T | GRCh37 |
| NC_000005.8:g.1331896C>T | NCBI36 |
| NG_009265.1:g.21267G>A , LRG_343:g.21267G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310581.10:c.2146G>A MANE Select | ENSP00000309572.5:p.Ala716Thr | |
| ENST00000656021.1:c.*1692G>A | ENSP00000499759.1:n.*1692G>A | |
| ENST00000310581.9:c.2146G>A | ENSP00000309572.5:p.Ala716Thr | |
| ENST00000334602.10:c.2146G>A | ENSP00000334346.6:p.Ala716Thr | |
| ENST00000460137.6:c.2131-21G>A | ENSP00000425003.1:n.2131-21G>A | |
| ENST00000484238.6:n.959G>A | ||
| ENST00000508104.2:c.2146G>A | ENSP00000426042.2:p.Ala716Thr | |
| NM_001193376.1:c.2146G>A | NP_001180305.1:p.Ala716Thr | |
| NM_198253.2:c.2146G>A , LRG_343t1:c.2146G>A | NP_937983.2:p.Ala716Thr | |
| XM_011514104.1:c.616G>A | XP_011512406.1:p.Ala206Thr | |
| XM_011514105.1:c.502G>A | XP_011512407.1:p.Ala168Thr | |
| XM_011514106.1:c.502G>A | XP_011512408.1:p.Ala168Thr | |
| NR_149162.1:n.2204G>A | ||
| NR_149163.1:n.2189-21G>A | ||
| NM_001193376.2:c.2146G>A | NP_001180305.1:p.Ala716Thr | |
| NM_198253.3:c.2146G>A MANE Select | NP_937983.2:p.Ala716Thr | |
| NR_149162.2:n.2225G>A | ||
| NR_149163.2:n.2210-21G>A | ||
| NM_001193376.3:c.2146G>A | NP_001180305.1:p.Ala716Thr | |
| NR_149162.3:n.2225G>A | ||
| NR_149163.3:n.2210-21G>A |