Linked Data
ClinVar Variation Id:
29620
ClinVar RCV Id:
RCV000022460
dbSNP Id:
rs387906598
ExAC:
8:61135236 C / T
gnomAD v2:
8-61135236-C-T
gnomAD v4:
8-60222677-C-T
COSMIC:
COSM193397
PubMed:
PMID:21937992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60222677C>T , CM000670.2:g.60222677C>T | GRCh38 |
| NC_000008.10:g.61135236C>T , CM000670.1:g.61135236C>T | GRCh37 |
| NC_000008.9:g.61297790C>T | NCBI36 |
| NG_023193.1:g.63719G>A | |
| NG_023193.2:g.63719G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317995.5:c.710G>A MANE Select | ENSP00000314407.4:p.Arg237Gln | |
| ENST00000317995.4:c.710G>A | ENSP00000314407.4:p.Arg237Gln | |
| ENST00000524872.5:n.948G>A | ||
| ENST00000528666.1:n.482G>A | ||
| NM_004056.4:c.710G>A | NP_004047.3:p.Arg237Gln | |
| XM_011517585.1:c.710G>A | XP_011515887.1:p.Arg237Gln | |
| XM_011517586.1:c.614G>A | XP_011515888.1:p.Arg205Gln | |
| NM_001321837.1:c.710G>A | NP_001308766.1:p.Arg237Gln | |
| NM_001321838.1:c.710G>A | NP_001308767.1:p.Arg237Gln | |
| NM_001321839.1:c.614G>A | NP_001308768.1:p.Arg205Gln | |
| NM_004056.5:c.710G>A | NP_004047.3:p.Arg237Gln | |
| NR_135821.1:n.986G>A | ||
| XM_017013818.1:c.458G>A | XP_016869307.1:p.Arg153Gln | |
| NM_004056.6:c.710G>A MANE Select | NP_004047.3:p.Arg237Gln | |
| NM_001321837.2:c.710G>A | NP_001308766.1:p.Arg237Gln | |
| NM_001321838.2:c.710G>A | NP_001308767.1:p.Arg237Gln | |
| NM_001321839.2:c.614G>A | NP_001308768.1:p.Arg205Gln | |
| NR_135821.2:n.963G>A |