Linked Data
ClinVar Variation Id:
252601
dbSNP Id:
rs774455945
ExAC:
19:44273179 C / T
gnomAD v2:
19-44273179-C-T
gnomAD v4:
19-43769027-C-T
COSMIC:
COSM344712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43769027C>T , CM000681.2:g.43769027C>T | GRCh38 |
| NC_000019.9:g.44273179C>T , CM000681.1:g.44273179C>T | GRCh37 |
| NC_000019.8:g.48965019C>T | NCBI36 |
| NG_052672.1:g.18113G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000601549.2:n.1086G>A | ||
| ENST00000648053.1:n.487G>A | ||
| ENST00000648319.1:c.1055G>A MANE Select | ENSP00000496939.1:p.Arg352His | |
| ENST00000262888.7:c.1055G>A | ENSP00000262888.3:p.Arg352His | |
| ENST00000597184.5:n.131G>A | ||
| ENST00000598836.1:c.267G>A | ||
| ENST00000599720.5:c.*325G>A | ENSP00000472513.1:n.*325G>A | |
| ENST00000600408.1:c.453G>A | ENSP00000472510.1:n.453G>A | |
| ENST00000601549.1:n.773G>A | ||
| ENST00000615047.4:c.659G>A | ENSP00000485014.1:p.Arg220His | |
| NM_002250.2:c.1055G>A | NP_002241.1:p.Arg352His | |
| XM_005258882.2:c.959G>A | XP_005258939.1:p.Arg320His | |
| XM_005258883.2:c.866G>A | XP_005258940.1:p.Arg289His | |
| XR_935823.1:n.2301G>A | ||
| XR_002958313.1:n.2447G>A | ||
| NM_002250.3:c.1055G>A MANE Select | NP_002241.1:p.Arg352His |