MyVariant.info:
GRCh37
chr1:g.40544316G>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40078644G>A , CM000663.2:g.40078644G>A | GRCh38 |
| NC_000001.10:g.40544316G>A , CM000663.1:g.40544316G>A | GRCh37 |
| NC_000001.9:g.40316903G>A | NCBI36 |
| NG_009192.1:g.23827C>T , LRG_690:g.23827C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.639C>T | ENSP00000394863.4:p.Ser213= | |
| ENST00000439754.6:c.642C>T | ENSP00000403207.2:p.Ser214= | |
| ENST00000449045.7:c.333C>T | ENSP00000392293.2:p.Ser111= | |
| ENST00000527311.7:c.411C>T | ENSP00000436695.3:p.Ser137= | |
| ENST00000530076.6:c.-16C>T | ENSP00000434007.1:n.-16C>T | |
| ENST00000530704.6:c.*265C>T | ENSP00000431655.1:n.*265C>T | |
| ENST00000641083.1:c.620C>T | ||
| ENST00000641236.1:n.879C>T | ||
| ENST00000641319.1:c.642C>T | ENSP00000493128.1:p.Ser214= | |
| ENST00000641381.1:c.149-1731C>T | ||
| ENST00000641471.1:c.729C>T | ENSP00000493146.1:p.Ser243= | |
| ENST00000641691.1:c.*494C>T | ENSP00000492910.1:n.*494C>T | |
| ENST00000641924.1:c.*71C>T | ENSP00000493063.1:n.*71C>T | |
| ENST00000642050.2:c.642C>T MANE Select | ENSP00000493153.1:p.Ser214= | |
| ENST00000372775.2:n.39C>T | ||
| ENST00000372779.8:c.729C>T | ENSP00000361865.4:p.Ser243= | |
| ENST00000433473.7:c.642C>T | ENSP00000394863.3:p.Ser214= | |
| ENST00000439754.5:c.327C>T | ENSP00000403207.1:p.Ser109= | |
| ENST00000449045.6:c.333C>T | ENSP00000392293.2:p.Ser111= | |
| ENST00000527311.6:c.417C>T | ENSP00000436695.2:p.Ser139= | |
| ENST00000529905.5:c.642C>T | ENSP00000432053.1:p.Ser214= | |
| ENST00000530076.5:c.-16C>T | ENSP00000434007.1:n.-16C>T | |
| ENST00000530704.5:c.*265C>T | ENSP00000431655.1:n.*265C>T | |
| NM_000310.3:c.642C>T , LRG_690t1:c.642C>T | NP_000301.1:p.Ser214= | |
| NM_001142604.1:c.333C>T | NP_001136076.1:p.Ser111= | |
| XM_005271008.1:c.642C>T | XP_005271065.1:p.Ser214= | |
| NM_001363695.1:c.642C>T | NP_001350624.1:p.Ser214= | |
| NM_000310.4:c.642C>T MANE Select | NP_000301.1:p.Ser214= | |
| NM_001142604.2:c.333C>T | NP_001136076.1:p.Ser111= | |
| NM_001363695.2:c.642C>T | NP_001350624.1:p.Ser214= |