Linked Data
ClinVar Variation Id:
991190
ClinVar RCV Id:
RCV001279361
dbSNP Id:
rs1401528755
gnomAD v2:
2-150426510-A-C
gnomAD v4:
2-149569996-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149569996A>C , CM000664.2:g.149569996A>C | GRCh38 |
| NC_000002.11:g.150426510A>C , CM000664.1:g.150426510A>C | GRCh37 |
| NC_000002.10:g.150134756A>C | NCBI36 |
| NG_009189.1:g.22821T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.869T>G MANE Select | ENSP00000301920.5:p.Met290Arg | |
| ENST00000303319.9:c.869T>G | ENSP00000301920.5:p.Met290Arg | |
| ENST00000422782.2:c.971T>G | ENSP00000408331.2:p.Met324Arg | |
| ENST00000428879.5:c.869T>G | ENSP00000389060.1:p.Met290Arg | |
| NM_015702.2:c.869T>G | NP_056517.1:p.Met290Arg | |
| NM_015702.3:c.869T>G MANE Select | NP_056517.1:p.Met290Arg |