Linked Data
ClinVar Variation Id:
2809822
ClinVar RCV Id:
RCV003680148
dbSNP Id:
rs1232937699
gnomAD v4:
19-6682204-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6682204T>C , CM000681.2:g.6682204T>C | GRCh38 |
| NC_000019.9:g.6682215T>C , CM000681.1:g.6682215T>C | GRCh37 |
| NC_000019.8:g.6633215T>C | NCBI36 |
| NG_009557.1:g.43448A>G , LRG_27:g.43448A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2546A>G | ||
| ENST00000695653.1:c.2107A>G | ENSP00000512084.1:p.Met703Val | |
| ENST00000695654.1:c.3223A>G | ENSP00000512085.1:p.Met1075Val | |
| ENST00000695689.1:c.169A>G | ENSP00000512101.1:n.169A>G | |
| ENST00000695690.1:n.389A>G | ||
| ENST00000695691.1:n.389A>G | ||
| ENST00000245907.11:c.4198A>G MANE Select | ENSP00000245907.4:p.Met1400Val | |
| ENST00000245907.10:c.4198A>G | ENSP00000245907.4:p.Met1400Val | |
| ENST00000596548.1:c.319A>G | ENSP00000469744.1:p.Met107Val | |
| ENST00000599899.5:n.1157A>G | ||
| ENST00000601008.1:c.242-4246A>G | ENSP00000471384.1:n.242-4246A>G | |
| NM_000064.3:c.4198A>G | NP_000055.2:p.Met1400Val | |
| NM_000064.4:c.4198A>G MANE Select | NP_000055.2:p.Met1400Val |