Linked Data
MyVariant Identifiers:
chr18:g.29121160A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541197A>C , CM000680.2:g.31541197A>C | GRCh38 |
| NC_000018.9:g.29121160A>C , CM000680.1:g.29121160A>C | GRCh37 |
| NC_000018.8:g.27375158A>C | NCBI36 |
| NG_007072.3:g.47956A>C , LRG_397:g.47956A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1884A>C MANE Select | ENSP00000261590.8:p.Val628= | |
| ENST00000261590.12:c.1884A>C | ENSP00000261590.8:p.Val628= | |
| NM_001943.3:c.1884A>C , LRG_397t1:c.1884A>C | NP_001934.2:p.Val628= | |
| NM_001943.4:c.1884A>C | NP_001934.2:p.Val628= | |
| XM_024451095.1:c.1350A>C | XP_024306863.1:p.Val450= | |
| NM_001943.5:c.1884A>C MANE Select | NP_001934.2:p.Val628= |