Linked Data
ClinVar Variation Id:
896574
ClinVar RCV Id:
RCV001139324
dbSNP Id:
rs146836452
ExAC:
2:215843598 C / T
gnomAD v2:
2-215843598-C-T
gnomAD v3:
2-214978874-C-T
gnomAD v4:
2-214978874-C-T
COSMIC:
COSM1238081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214978874C>T , CM000664.2:g.214978874C>T | GRCh38 |
| NC_000002.11:g.215843598C>T , CM000664.1:g.215843598C>T | GRCh37 |
| NC_000002.10:g.215551843C>T | NCBI36 |
| NG_007074.1:g.164554G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.4907G>A MANE Select | ENSP00000272895.7:p.Arg1636Gln | |
| ENST00000272895.11:c.4907G>A | ENSP00000272895.7:p.Arg1636Gln | |
| ENST00000389661.4:c.3953G>A | ENSP00000374312.4:p.Arg1318Gln | |
| NM_015657.3:c.3953G>A | NP_056472.2:p.Arg1318Gln | |
| NM_173076.2:c.4907G>A | NP_775099.2:p.Arg1636Gln | |
| NR_103740.1:n.5207G>A | ||
| XM_011510951.1:c.4916G>A | XP_011509253.1:p.Arg1639Gln | |
| XM_011510952.1:c.4916G>A | XP_011509254.1:p.Arg1639Gln | |
| XM_011510951.2:c.4916G>A | XP_011509253.1:p.Arg1639Gln | |
| NM_173076.3:c.4907G>A MANE Select | NP_775099.2:p.Arg1636Gln | |
| NR_103740.2:n.5405G>A | ||
| NM_015657.4:c.3953G>A | NP_056472.2:p.Arg1318Gln |