Linked Data
ClinVar Variation Id:
425999
dbSNP Id:
rs201781338
ExAC:
2:203421006 G / A
gnomAD v2:
2-203421006-G-A
gnomAD v3:
2-202556283-G-A
gnomAD v4:
2-202556283-G-A
COSMIC:
COSM1404601
ERepo:
CA2061553/MONDO:0015924/125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202556283G>A , CM000664.2:g.202556283G>A | GRCh38 |
| NC_000002.11:g.203421006G>A , CM000664.1:g.203421006G>A | GRCh37 |
| NC_000002.10:g.203129251G>A | NCBI36 |
| NG_009363.1:g.184957G>A , LRG_712:g.184957G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.2618G>A MANE Select | ENSP00000363708.4:p.Arg873Gln | |
| ENST00000638587.1:c.2549G>A | ENSP00000491062.1:n.2549G>A | |
| ENST00000374574.2:c.1586+3395G>A | ENSP00000363702.2:n.1586+3395G>A | |
| ENST00000374580.8:c.2618G>A | ENSP00000363708.4:p.Arg873Gln | |
| NM_001204.6:c.2618G>A , LRG_712t1:c.2618G>A | NP_001195.2:p.Arg873Gln | |
| XM_011511687.1:c.2618G>A | XP_011509989.1:p.Arg873Gln | |
| XM_011511688.1:c.1586+3395G>A | XP_011509990.1:n.1586+3395G>A | |
| NM_001204.7:c.2618G>A MANE Select | NP_001195.2:p.Arg873Gln |