Linked Data
ClinVar Variation Id:
2747614
ClinVar RCV Id:
RCV003570543
MyVariant Identifiers:
chr6:g.112390748G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112069545G>C , CM000668.2:g.112069545G>C | GRCh38 |
| NC_000006.11:g.112390748G>C , CM000668.1:g.112390748G>C | GRCh37 |
| NC_000006.10:g.112497441G>C | NCBI36 |
| NG_011748.1:g.20471G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.990G>C MANE Select | ENSP00000357655.4:p.Leu330= | |
| ENST00000639360.1:c.891G>C | ENSP00000491774.1:p.Leu297= | |
| ENST00000230529.9:c.990G>C | ENSP00000230529.5:p.Leu330= | |
| ENST00000361714.5:c.990G>C | ENSP00000354734.2:p.Leu330= | |
| ENST00000368663.4:c.*296G>C | ENSP00000357652.4:n.*296G>C | |
| ENST00000368664.7:c.*394G>C | ENSP00000357653.3:n.*394G>C | |
| ENST00000368666.6:c.1044G>C | ENSP00000357655.3:p.Leu348= | |
| ENST00000409166.5:c.318G>C | ENSP00000386467.1:p.Leu106= | |
| ENST00000454589.5:c.*394G>C | ENSP00000395928.1:n.*394G>C | |
| ENST00000604763.5:c.990G>C | ENSP00000473777.1:p.Leu330= | |
| ENST00000613648.1:n.825G>C | ||
| ENST00000620524.3:n.921G>C | ||
| NM_003880.3:c.990G>C | NP_003871.1:p.Leu330= | |
| NM_198239.1:c.1044G>C | NP_937882.1:p.Leu348= | |
| NR_125353.1:n.1244G>C | ||
| NR_125354.1:n.1164G>C | ||
| XM_011536220.1:c.990G>C | XP_011534522.1:p.Leu330= | |
| XM_011536221.1:c.*394G>C | XP_011534523.1:n.*394G>C | |
| XM_011536223.1:c.408G>C | XP_011534525.1:p.Leu136= | |
| XM_011536223.3:c.408G>C | XP_011534525.1:p.Leu136= | |
| XR_001743705.1:n.1592G>C | ||
| NM_003880.4:c.990G>C | NP_003871.1:p.Leu330= | |
| NM_198239.2:c.990G>C MANE Select | NP_937882.2:p.Leu330= | |
| NR_125353.2:n.1308G>C | ||
| NR_125354.3:n.1135G>C |