Linked Data
ClinVar Variation Id:
10239
ClinVar RCV Id:
RCV000010952
dbSNP Id:
rs137852430
PubMed:
PMID:8449505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154947853A>G , CM000685.2:g.154947853A>G | GRCh38 |
| NC_000023.10:g.154176128A>G , CM000685.1:g.154176128A>G | GRCh37 |
| NC_000023.9:g.153829322A>G | NCBI36 |
| NG_011403.1:g.79871T>C | |
| NG_011403.2:g.79871T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1958T>C MANE Select | ENSP00000353393.4:p.Val653Ala | |
| ENST00000647125.1:c.*1779+6039T>C | ENSP00000496062.1:n.*1779+6039T>C | |
| ENST00000360256.8:c.1958T>C | ENSP00000353393.4:p.Val653Ala | |
| NM_000132.3:c.1958T>C | NP_000123.1:p.Val653Ala | |
| XM_011531126.1:c.1853T>C | XP_011529428.1:p.Val618Ala | |
| NM_000132.4:c.1958T>C MANE Select | NP_000123.1:p.Val653Ala |