MyVariant.info:
GRCh37
chr17:g.42989088C>A
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44911720C>A , CM000679.2:g.44911720C>A | GRCh38 |
| NC_000017.10:g.42989088C>A , CM000679.1:g.42989088C>A | GRCh37 |
| NC_000017.9:g.40344614C>A | NCBI36 |
| NG_008401.1:g.8827G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.858G>T | ENSP00000253408.5:p.Arg286= | |
| ENST00000435360.8:c.858G>T | ENSP00000403962.1:p.Arg286= | |
| ENST00000253408.10:c.858G>T | ENSP00000253408.5:p.Arg286= | |
| ENST00000435360.7:c.858G>T | ENSP00000403962.1:p.Arg286= | |
| ENST00000586127.6:n.1387G>T | ||
| ENST00000586793.6:c.858G>T | ENSP00000468500.2:p.Arg286= | |
| ENST00000587997.6:n.334G>T | ||
| ENST00000588735.3:c.858G>T MANE Select | ENSP00000466598.2:p.Arg286= | |
| ENST00000591327.2:n.2012G>T | ||
| ENST00000592320.6:c.619-399G>T | ENSP00000465320.1:n.619-399G>T | |
| ENST00000638281.1:c.858G>T | ENSP00000491088.1:p.Arg286= | |
| ENST00000638618.1:c.513G>T | ENSP00000492832.1:p.Arg171= | |
| ENST00000639277.1:c.858G>T | ENSP00000492432.1:p.Arg286= | |
| ENST00000640552.1:n.872G>T | ||
| ENST00000253408.9:c.858G>T | ENSP00000253408.4:p.Arg286= | |
| ENST00000376990.8:c.*257G>T | ENSP00000366189.4:n.*257G>T | |
| ENST00000435360.6:c.858G>T | ENSP00000403962.1:p.Arg286= | |
| ENST00000586793.5:c.858G>T | ENSP00000468500.1:p.Arg286= | |
| ENST00000587997.5:c.334G>T | ||
| ENST00000588316.1:c.762G>T | ENSP00000465629.1:p.Arg254= | |
| ENST00000588640.5:n.238G>T | ||
| ENST00000588735.1:c.83-3604G>T | ENSP00000466598.1:n.83-3604G>T | |
| ENST00000588957.5:c.126G>T | ENSP00000465565.1:p.Arg42= | |
| ENST00000590922.1:n.508G>T | ||
| ENST00000591719.5:n.492G>T | ||
| ENST00000592320.5:c.619-399G>T | ENSP00000465320.1:n.619-399G>T | |
| NM_001131019.2:c.858G>T | NP_001124491.1:p.Arg286= | |
| NM_001242376.1:c.858G>T | NP_001229305.1:p.Arg286= | |
| NM_002055.4:c.858G>T | NP_002046.1:p.Arg286= | |
| NM_001363846.1:c.858G>T | NP_001350775.1:p.Arg286= | |
| XM_024450690.1:c.1062G>T | XP_024306458.1:p.Arg354= | |
| XM_024450691.1:c.1062G>T | XP_024306459.1:p.Arg354= | |
| XM_024450692.1:c.1062G>T | XP_024306460.1:p.Arg354= | |
| XM_024450693.1:c.1062G>T | XP_024306461.1:p.Arg354= | |
| NM_002055.5:c.858G>T MANE Select | NP_002046.1:p.Arg286= | |
| NM_001131019.3:c.858G>T | NP_001124491.1:p.Arg286= | |
| NM_001242376.2:c.858G>T | NP_001229305.1:p.Arg286= | |
| NM_001242376.3:c.858G>T | NP_001229305.1:p.Arg286= | |
| NM_001363846.2:c.858G>T | NP_001350775.1:p.Arg286= |