Linked Data
ClinVar Variation Id:
2717996
ClinVar RCV Id:
RCV003551023
MyVariant Identifiers:
chr5:g.131006213A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131670520A>G , CM000667.2:g.131670520A>G | GRCh38 |
| NC_000005.9:g.131006213A>G , CM000667.1:g.131006213A>G | GRCh37 |
| NC_000005.8:g.131034112A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510461.6:c.3051T>C MANE Select | ENSP00000421985.1:p.Ile1017= | |
| ENST00000307954.12:c.2916T>C | ENSP00000310453.8:p.Ile972= | |
| ENST00000307968.11:c.2967T>C | ENSP00000309266.7:p.Ile989= | |
| ENST00000510461.5:c.3051T>C | ENSP00000421985.1:p.Ile1017= | |
| ENST00000514667.1:c.220-65827T>C | ENSP00000426948.1:n.220-65827T>C | |
| ENST00000615660.4:c.2307T>C | ENSP00000480650.1:p.Ile769= | |
| NM_001008738.2:c.2967T>C | NP_001008738.2:p.Ile989= | |
| NM_133372.2:c.3051T>C | NP_588613.2:p.Ile1017= | |
| NM_001346114.1:c.2916T>C | NP_001333043.1:p.Ile972= | |
| NM_133372.3:c.3051T>C MANE Select | NP_588613.3:p.Ile1017= | |
| NM_001008738.3:c.2967T>C | NP_001008738.3:p.Ile989= | |
| NM_001346114.2:c.2916T>C | NP_001333043.1:p.Ile972= |