Linked Data
ClinVar Variation Id:
1440250
ClinVar RCV Id:
RCV001936833
dbSNP Id:
rs2105041421
gnomAD v4:
2-149570057-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570057A>G , CM000664.2:g.149570057A>G | GRCh38 |
| NC_000002.11:g.150426571A>G , CM000664.1:g.150426571A>G | GRCh37 |
| NC_000002.10:g.150134817A>G | NCBI36 |
| NG_009189.1:g.22760T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.808T>C MANE Select | ENSP00000301920.5:p.Trp270Arg | |
| ENST00000303319.9:c.808T>C | ENSP00000301920.5:p.Trp270Arg | |
| ENST00000422782.2:c.910T>C | ENSP00000408331.2:p.Trp304Arg | |
| ENST00000428879.5:c.808T>C | ENSP00000389060.1:p.Trp270Arg | |
| NM_015702.2:c.808T>C | NP_056517.1:p.Trp270Arg | |
| NM_015702.3:c.808T>C MANE Select | NP_056517.1:p.Trp270Arg |