Linked Data
MyVariant Identifiers:
chr12:g.124114953C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123630406C>G , CM000674.2:g.123630406C>G | GRCh38 |
| NC_000012.11:g.124114953C>G , CM000674.1:g.124114953C>G | GRCh37 |
| NC_000012.10:g.122680906C>G | NCBI36 |
| NG_015862.1:g.8371G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424014.7:c.243G>C MANE Select | ENSP00000416250.2:p.Leu81= | |
| ENST00000424014.6:c.243G>C | ENSP00000416250.2:p.Leu81= | |
| ENST00000452159.6:n.374G>C | ||
| ENST00000534960.5:c.290G>C | ||
| ENST00000537073.1:c.243G>C | ENSP00000444183.1:p.Leu81= | |
| ENST00000539951.5:c.204G>C | ENSP00000438060.1:p.Leu68= | |
| ENST00000543940.1:n.343G>C | ||
| NM_001414.3:c.243G>C | NP_001405.1:p.Leu81= | |
| NM_001414.4:c.243G>C MANE Select | NP_001405.1:p.Leu81= |