Linked Data
ClinVar Variation Id:
2941227
ClinVar RCV Id:
RCV003792489
MyVariant Identifiers:
chr12:g.102224412C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101830634C>T , CM000674.2:g.101830634C>T | GRCh38 |
| NC_000012.11:g.102224412C>T , CM000674.1:g.102224412C>T | GRCh37 |
| NC_000012.10:g.100748543C>T | NCBI36 |
| NG_021243.1:g.5234G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.42G>A MANE Select | ENSP00000299314.7:p.Leu14= | |
| ENST00000647144.1:n.30G>A | ||
| ENST00000299314.11:c.42G>A | ENSP00000299314.7:p.Leu14= | |
| ENST00000392919.4:c.42G>A | ENSP00000376651.4:p.Leu14= | |
| ENST00000549165.1:c.42G>A | ENSP00000450413.1:p.Leu14= | |
| ENST00000549940.5:c.42G>A | ENSP00000449150.1:p.Leu14= | |
| NM_024312.4:c.42G>A | NP_077288.2:p.Leu14= | |
| XM_006719593.2:c.42G>A | XP_006719656.1:p.Leu14= | |
| XM_006719593.3:c.42G>A | XP_006719656.1:p.Leu14= | |
| XM_017019961.1:c.-108G>A | XP_016875450.1:n.-108G>A | |
| XM_017019962.2:c.-1309G>A | XP_016875451.1:n.-1309G>A | |
| NM_024312.5:c.42G>A MANE Select | NP_077288.2:p.Leu14= |