Linked Data
ClinVar Variation Id:
225340
ClinVar RCV Id:
RCV000490318
dbSNP Id:
rs200216040
ExAC:
5:78340265 G / A
gnomAD v2:
5-78340265-G-A
gnomAD v3:
5-79044442-G-A
gnomAD v4:
5-79044442-G-A
PubMed:
PMID:11231903
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79044442G>A , CM000667.2:g.79044442G>A | GRCh38 |
| NC_000005.9:g.78340265G>A , CM000667.1:g.78340265G>A | GRCh37 |
| NC_000005.8:g.78376021G>A | NCBI36 |
| NG_012164.1:g.30185C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255189.8:c.856C>T MANE Select | ENSP00000255189.3:p.Arg286Ter | |
| ENST00000255189.7:c.856C>T | ENSP00000255189.3:p.Arg286Ter | |
| ENST00000517853.5:c.277-11034C>T | ENSP00000428995.1:n.277-11034C>T | |
| ENST00000518477.5:c.*90C>T | ENSP00000427834.1:n.*90C>T | |
| ENST00000521052.5:c.*154C>T | ENSP00000430133.1:n.*154C>T | |
| ENST00000523732.1:c.373C>T | ENSP00000430972.1:p.Arg125Ter | |
| NM_013391.3:c.856C>T MANE Select | NP_037523.2:p.Arg286Ter | |
| NR_104002.1:n.441C>T | ||
| NR_104003.1:n.331-11034C>T | ||
| XM_006714597.1:c.856C>T | XP_006714660.1:p.Arg286Ter | |
| XM_011543354.1:c.856C>T | XP_011541656.1:p.Arg286Ter | |
| XM_011543355.1:c.856C>T | XP_011541657.1:p.Arg286Ter | |
| XM_006714597.2:c.856C>T | XP_006714660.1:p.Arg286Ter | |
| XM_011543355.2:c.856C>T | XP_011541657.1:p.Arg286Ter | |
| NR_104002.2:n.441C>T | ||
| NR_104003.2:n.331-11034C>T | ||
| NR_104002.3:n.441C>T | ||
| NR_104003.3:n.331-11034C>T |