Linked Data
ClinVar Variation Id:
1118278
ClinVar RCV Id:
RCV001447304
dbSNP Id:
rs1474967244
gnomAD v2:
2-150426557-T-C
gnomAD v4:
2-149570043-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570043T>C , CM000664.2:g.149570043T>C | GRCh38 |
| NC_000002.11:g.150426557T>C , CM000664.1:g.150426557T>C | GRCh37 |
| NC_000002.10:g.150134803T>C | NCBI36 |
| NG_009189.1:g.22774A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.822A>G MANE Select | ENSP00000301920.5:p.Val274= | |
| ENST00000303319.9:c.822A>G | ENSP00000301920.5:p.Val274= | |
| ENST00000422782.2:c.924A>G | ENSP00000408331.2:p.Val308= | |
| ENST00000428879.5:c.822A>G | ENSP00000389060.1:p.Val274= | |
| NM_015702.2:c.822A>G | NP_056517.1:p.Val274= | |
| NM_015702.3:c.822A>G MANE Select | NP_056517.1:p.Val274= |