MyVariant.info:
GRCh37
chr12:g.103238135C>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844357C>A , CM000674.2:g.102844357C>A | GRCh38 |
| NC_000012.11:g.103238135C>A , CM000674.1:g.103238135C>A | GRCh37 |
| NC_000012.10:g.101762265C>A | NCBI36 |
| NG_008690.1:g.78246G>T | |
| NG_008690.2:g.119054G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1044G>T MANE Select | ENSP00000448059.1:p.Leu348= | |
| ENST00000307000.7:c.1029G>T | ENSP00000303500.2:p.Leu343= | |
| ENST00000549247.6:n.803G>T | ||
| ENST00000551114.2:n.706G>T | ||
| ENST00000553106.5:c.1044G>T | ENSP00000448059.1:p.Leu348= | |
| ENST00000635477.1:c.148G>T | ||
| ENST00000635528.1:n.559G>T | ||
| NM_000277.1:c.1044G>T | NP_000268.1:p.Leu348= | |
| XM_011538422.1:c.987G>T | XP_011536724.1:p.Leu329= | |
| NM_000277.2:c.1044G>T | NP_000268.1:p.Leu348= | |
| NM_001354304.1:c.1044G>T | NP_001341233.1:p.Leu348= | |
| NM_000277.3:c.1044G>T MANE Select | NP_000268.1:p.Leu348= | |
| NM_001354304.2:c.1044G>T | NP_001341233.1:p.Leu348= |