Linked Data
ClinVar Variation Id:
39574
ClinVar RCV Id:
RCV000032774
dbSNP Id:
rs587776928
PubMed:
PMID:18537974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120627164C>G , CM000685.2:g.120627164C>G | GRCh38 |
| NC_000023.10:g.119761019C>G , CM000685.1:g.119761019C>G | GRCh37 |
| NC_000023.9:g.119645047C>G | NCBI36 |
| NG_016219.1:g.7987G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304661.6:c.3G>C MANE Select | ENSP00000304364.5:p.Met1Ile | |
| ENST00000304661.5:c.3G>C | ENSP00000304364.5:p.Met1Ile | |
| ENST00000371313.2:c.3G>C | ENSP00000360363.2:p.Met1Ile | |
| NM_001011551.2:c.3G>C | NP_001011551.1:p.Met1Ile | |
| NM_152692.4:c.3G>C | NP_689905.1:p.Met1Ile | |
| NM_001011551.3:c.3G>C MANE Select | NP_001011551.1:p.Met1Ile | |
| NM_152692.5:c.3G>C | NP_689905.1:p.Met1Ile |