Linked Data
ClinVar Variation Id:
1081315
ClinVar RCV Id:
RCV001397268
dbSNP Id:
rs2144753969
MyVariant Identifiers:
chr17:g.72916208G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920113G>C , CM000679.2:g.74920113G>C | GRCh38 |
| NC_000017.10:g.72916208G>C , CM000679.1:g.72916208G>C | GRCh37 |
| NC_000017.9:g.70427803G>C | NCBI36 |
| NG_007882.1:g.8144C>G | |
| NG_033062.1:g.839G>C | |
| NG_007882.2:g.8151C>G | |
| NG_033062.2:g.839G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.723C>G MANE Select | ENSP00000480279.1:p.Ala241= | |
| ENST00000579243.1:c.*322C>G | ENSP00000462568.1:n.*322C>G | |
| ENST00000614341.4:c.723C>G | ENSP00000480279.1:p.Ala241= | |
| NM_001282489.2:c.414C>G | NP_001269418.1:p.Ala138= | |
| NM_173477.4:c.723C>G | NP_775748.2:p.Ala241= | |
| XM_011524296.1:c.414C>G | XP_011522598.1:p.Ala138= | |
| XM_011524296.2:c.414C>G | XP_011522598.1:p.Ala138= | |
| NM_173477.5:c.723C>G MANE Select | NP_775748.2:p.Ala241= | |
| NM_001282489.3:c.414C>G | NP_001269418.1:p.Ala138= |