Linked Data
ClinVar Variation Id:
2884569
ClinVar RCV Id:
RCV003615128
MyVariant Identifiers:
chr15:g.73660099T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367758T>C , CM000677.2:g.73367758T>C | GRCh38 |
| NC_000015.9:g.73660099T>C , CM000677.1:g.73660099T>C | GRCh37 |
| NC_000015.8:g.71447152T>C | NCBI36 |
| NG_009063.1:g.6507A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.513A>G MANE Select | ENSP00000261917.3:p.Pro171= | |
| ENST00000261917.3:c.513A>G | ENSP00000261917.3:p.Pro171= | |
| NM_005477.2:c.513A>G | NP_005468.1:p.Pro171= | |
| NM_005477.3:c.513A>G MANE Select | NP_005468.1:p.Pro171= |