Linked Data
ClinVar Variation Id:
2754391
ClinVar RCV Id:
RCV003524520
gnomAD v4:
1-119915516-G-C
MyVariant Identifiers:
chr1:g.120458139G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119915516G>C , CM000663.2:g.119915516G>C | GRCh38 |
| NC_000001.10:g.120458139G>C , CM000663.1:g.120458139G>C | GRCh37 |
| NC_000001.9:g.120259662G>C | NCBI36 |
| NG_008163.1:g.159138C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.7206C>G MANE Select | ENSP00000256646.2:p.Pro2402= | |
| ENST00000256646.6:c.7206C>G | ENSP00000256646.2:p.Pro2402= | |
| NM_024408.3:c.7206C>G | NP_077719.2:p.Pro2402= | |
| XM_005270901.2:c.7089C>G | XP_005270958.1:p.Pro2363= | |
| XM_011541519.1:c.7194C>G | XP_011539821.1:p.Pro2398= | |
| XM_011541520.1:c.7089C>G | XP_011539822.1:p.Pro2363= | |
| NM_024408.4:c.7206C>G MANE Select | NP_077719.2:p.Pro2402= |