Linked Data
ClinVar Variation Id:
729593
ClinVar RCV Id:
RCV000904263
dbSNP Id:
rs34184212
ExAC:
X:99854149 A / C
gnomAD v2:
X-99854149-A-C
gnomAD v3:
X-100599152-A-C
gnomAD v4:
X-100599152-A-C
COSMIC:
COSM6050188
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100599152A>C , CM000685.2:g.100599152A>C | GRCh38 |
| NC_000023.10:g.99854149A>C , CM000685.1:g.99854149A>C | GRCh37 |
| NC_000023.9:g.99740805A>C | NCBI36 |
| NG_013266.1:g.19360A>C | |
| NG_013266.2:g.19360A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373031.5:c.714A>C MANE Select | ENSP00000362122.4:p.Ala238= | |
| ENST00000373031.4:c.714A>C | ENSP00000362122.4:p.Ala238= | |
| NM_022144.2:c.714A>C | NP_071427.2:p.Ala238= | |
| XM_005262175.3:c.525A>C | XP_005262232.1:p.Ala175= | |
| XM_005262176.1:c.578-356A>C | XP_005262233.1:n.578-356A>C | |
| XM_011531008.1:c.525A>C | XP_011529310.1:p.Ala175= | |
| XM_011531009.1:c.525A>C | XP_011529311.1:p.Ala175= | |
| XM_011531010.1:c.525A>C | XP_011529312.1:p.Ala175= | |
| NM_022144.3:c.714A>C MANE Select | NP_071427.2:p.Ala238= |