Linked Data
MyVariant Identifiers:
chr18:g.29111204A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31531241A>C , CM000680.2:g.31531241A>C | GRCh38 |
| NC_000018.9:g.29111204A>C , CM000680.1:g.29111204A>C | GRCh37 |
| NC_000018.8:g.27365202A>C | NCBI36 |
| NG_007072.3:g.38000A>C , LRG_397:g.38000A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683614.2:n.1100A>C | ||
| ENST00000683614.1:c.1100A>C | ||
| ENST00000261590.13:c.1269A>C MANE Select | ENSP00000261590.8:p.Pro423= | |
| ENST00000261590.12:c.1269A>C | ENSP00000261590.8:p.Pro423= | |
| NM_001943.3:c.1269A>C , LRG_397t1:c.1269A>C | NP_001934.2:p.Pro423= | |
| NM_001943.4:c.1269A>C | NP_001934.2:p.Pro423= | |
| XM_024451095.1:c.735A>C | XP_024306863.1:p.Pro245= | |
| NM_001943.5:c.1269A>C MANE Select | NP_001934.2:p.Pro423= |