Linked Data
ClinVar Variation Id:
2220632
ClinVar RCV Id:
RCV004083699
dbSNP Id:
rs367923363
ExAC:
19:49206800 T / G
gnomAD v2:
19-49206800-T-G
gnomAD v3:
19-48703543-T-G
gnomAD v4:
19-48703543-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703543T>G , CM000681.2:g.48703543T>G | GRCh38 |
| NC_000019.9:g.49206800T>G , CM000681.1:g.49206800T>G | GRCh37 |
| NC_000019.8:g.53898612T>G | NCBI36 |
| NG_007511.1:g.12573T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.587T>G MANE Select | ENSP00000387498.2:p.Val196Gly | |
| ENST00000522966.2:c.587T>G | ENSP00000430227.2:p.Val196Gly | |
| ENST00000391876.5:c.587T>G | ENSP00000375748.4:p.Val196Gly | |
| ENST00000425340.2:c.587T>G | ENSP00000387498.2:p.Val196Gly | |
| ENST00000522966.1:c.587T>G | ENSP00000430227.1:p.Val196Gly | |
| NM_000511.5:c.587T>G | NP_000502.4:p.Val196Gly | |
| NM_001097638.2:c.587T>G | NP_001091107.1:p.Val196Gly | |
| NR_131188.1:n.306A>C | ||
| NM_000511.6:c.587T>G MANE Select | NP_000502.4:p.Val196Gly | |
| NM_001097638.3:c.587T>G | NP_001091107.1:p.Val196Gly |